SNP Links for Protein (Select 1001624468) - SNP

Links from Protein

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Select item 14908617631.

rs1490861763 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:112167247 (GRCh38)
3:111886094 (GRCh37)
Canonical SPDI:: NC_000003.12:112167246:T:C
Gene:: SLC9C1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.112167247T>C, NC_000003.11:g.111886094T>C, NW_019805492.1:g.60022T>C, NM_183061.3:c.3338A>G, NM_183061.2:c.3338A>G, NM_183061.1:c.3338A>G, NM_001320531.2:c.3194A>G, NM_001320531.1:c.3194A>G, XM_011512718.2:c.3176A>G, XM_011512718.1:c.3176A>G, XM_011512719.2:c.3167A>G, XM_011512719.1:c.3167A>G, XM_017006247.2:c.3152A>G, XM_017006247.1:c.3152A>G, XM_017006246.2:c.3209A>G, XM_017006246.1:c.3209A>G, XM_017006248.2:c.2942A>G, XM_017006248.1:c.2942A>G, NR_135297.2:n.2608A>G, NR_135297.1:n.2650A>G, XM_011512725.2:c.1931A>G, XM_011512725.1:c.1931A>G, NP_898884.1:p.Lys1113Arg, NP_001307460.1:p.Lys1065Arg, XP_011511020.1:p.Lys1059Arg, XP_011511021.1:p.Lys1056Arg, XP_016861736.1:p.Lys1051Arg, XP_016861735.1:p.Lys1070Arg, XP_016861737.1:p.Lys981Arg, XP_011511027.1:p.Lys644Arg

Select item 14905716332.

rs1490571633 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:112169304 (GRCh38)
3:111888151 (GRCh37)
Canonical SPDI:: NC_000003.12:112169303:A:G
Gene:: SLC9C1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000029/4 (GnomAD)
G=0.000034/9 (TOPMED)
HGVS:: NC_000003.12:g.112169304A>G, NC_000003.11:g.111888151A>G, NW_019805492.1:g.62079A>G, NM_183061.3:c.2944T>C, NM_183061.2:c.2944T>C, NM_183061.1:c.2944T>C, NM_001320531.2:c.2800T>C, NM_001320531.1:c.2800T>C, XM_011512718.2:c.2782T>C, XM_011512718.1:c.2782T>C, XM_011512719.2:c.2773T>C, XM_011512719.1:c.2773T>C, XM_017006247.2:c.2758T>C, XM_017006247.1:c.2758T>C, XM_017006246.2:c.2815T>C, XM_017006246.1:c.2815T>C, XM_017006248.2:c.2548T>C, XM_017006248.1:c.2548T>C, NR_135297.2:n.2214T>C, NR_135297.1:n.2256T>C, XM_011512725.2:c.1537T>C, XM_011512725.1:c.1537T>C

Select item 14903687253.

rs1490368725 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:112180649 (GRCh38)
3:111899496 (GRCh37)
Canonical SPDI:: NC_000003.12:112180648:A:C
Gene:: SLC9C1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.112180649A>C, NC_000003.11:g.111899496A>C, NW_019805492.1:g.73400A>C, NM_183061.3:c.2663T>G, NM_183061.2:c.2663T>G, NM_183061.1:c.2663T>G, NM_001320531.2:c.2519T>G, NM_001320531.1:c.2519T>G, XM_011512718.2:c.2501T>G, XM_011512718.1:c.2501T>G, XM_011512719.2:c.2663T>G, XM_011512719.1:c.2663T>G, XM_017006247.2:c.2477T>G, XM_017006247.1:c.2477T>G, XM_017006246.2:c.2534T>G, XM_017006246.1:c.2534T>G, NR_135297.2:n.1933T>G, NR_135297.1:n.1975T>G, XM_011512725.2:c.1256T>G, XM_011512725.1:c.1256T>G, NP_898884.1:p.Val888Gly, NP_001307460.1:p.Val840Gly, XP_011511020.1:p.Val834Gly, XP_011511021.1:p.Val888Gly, XP_016861736.1:p.Val826Gly, XP_016861735.1:p.Val845Gly, XP_011511027.1:p.Val419Gly

Select item 14888729314.

rs1488872931 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:112239913 (GRCh38)
3:111958760 (GRCh37)
Canonical SPDI:: NC_000003.12:112239912:T:A
Gene:: SLC9C1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.112239913T>A, NC_000003.11:g.111958760T>A, NW_019805492.1:g.132651T>A, NM_183061.3:c.1373A>T, NM_183061.2:c.1373A>T, NM_183061.1:c.1373A>T, XM_011512727.3:c.1373A>T, XM_011512727.2:c.1373A>T, XM_011512727.1:c.1373A>T, XM_011512726.3:c.1373A>T, XM_011512726.2:c.1373A>T, XM_011512726.1:c.1373A>T, NM_001320531.2:c.1229A>T, NM_001320531.1:c.1229A>T, XM_017006246.2:c.1244A>T, XM_017006246.1:c.1244A>T, XM_017006248.2:c.1373A>T, XM_017006248.1:c.1373A>T, XM_011512718.2:c.1211A>T, XM_011512718.1:c.1211A>T, XM_011512719.2:c.1373A>T, XM_011512719.1:c.1373A>T, XM_017006247.2:c.1373A>T, XM_017006247.1:c.1373A>T, NR_135297.2:n.1025A>T, NR_135297.1:n.1067A>T, XM_011512724.2:c.1373A>T, XM_011512724.1:c.1373A>T, XM_017006250.2:c.1373A>T, XM_017006250.1:c.1373A>T, XM_011512725.2:c.-35A>T, XM_011512725.1:c.-35A>T, XM_047448022.1:c.1373A>T, NP_898884.1:p.Lys458Ile, XP_011511029.1:p.Lys458Ile, XP_011511028.1:p.Lys458Ile, NP_001307460.1:p.Lys410Ile, XP_016861735.1:p.Lys415Ile, XP_016861737.1:p.Lys458Ile, XP_011511020.1:p.Lys404Ile, XP_011511021.1:p.Lys458Ile, XP_016861736.1:p.Lys458Ile, XP_011511026.1:p.Lys458Ile, XP_016861739.1:p.Lys458Ile, XP_047303978.1:p.Lys458Ile

Select item 14879786575.

rs1487978657 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:112169199 (GRCh38)
3:111888046 (GRCh37)
Canonical SPDI:: NC_000003.12:112169198:C:T
Gene:: SLC9C1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.112169199C>T, NC_000003.11:g.111888046C>T, NW_019805492.1:g.61974C>T, NM_183061.3:c.3049G>A, NM_183061.2:c.3049G>A, NM_183061.1:c.3049G>A, NM_001320531.2:c.2905G>A, NM_001320531.1:c.2905G>A, XM_011512718.2:c.2887G>A, XM_011512718.1:c.2887G>A, XM_011512719.2:c.2878G>A, XM_011512719.1:c.2878G>A, XM_017006247.2:c.2863G>A, XM_017006247.1:c.2863G>A, XM_017006246.2:c.2920G>A, XM_017006246.1:c.2920G>A, XM_017006248.2:c.2653G>A, XM_017006248.1:c.2653G>A, NR_135297.2:n.2319G>A, NR_135297.1:n.2361G>A, XM_011512725.2:c.1642G>A, XM_011512725.1:c.1642G>A, NP_898884.1:p.Glu1017Lys, NP_001307460.1:p.Glu969Lys, XP_011511020.1:p.Glu963Lys, XP_011511021.1:p.Glu960Lys, XP_016861736.1:p.Glu955Lys, XP_016861735.1:p.Glu974Lys, XP_016861737.1:p.Glu885Lys, XP_011511027.1:p.Glu548Lys

Select item 14849655016.

rs1484965501 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:112231362 (GRCh38)
3:111950209 (GRCh37)
Canonical SPDI:: NC_000003.12:112231361:A:G
Gene:: SLC9C1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.112231362A>G, NC_000003.11:g.111950209A>G, NW_019805492.1:g.124100A>G, NM_183061.3:c.1571T>C, NM_183061.2:c.1571T>C, NM_183061.1:c.1571T>C, XM_011512727.3:c.1571T>C, XM_011512727.2:c.1571T>C, XM_011512727.1:c.1571T>C, XM_011512726.3:c.1571T>C, XM_011512726.2:c.1571T>C, XM_011512726.1:c.1571T>C, NM_001320531.2:c.1427T>C, NM_001320531.1:c.1427T>C, XM_017006246.2:c.1442T>C, XM_017006246.1:c.1442T>C, XM_017006248.2:c.1571T>C, XM_017006248.1:c.1571T>C, XM_011512718.2:c.1409T>C, XM_011512718.1:c.1409T>C, XM_011512719.2:c.1571T>C, XM_011512719.1:c.1571T>C, XM_017006247.2:c.1571T>C, XM_017006247.1:c.1571T>C, NR_135297.2:n.1223T>C, NR_135297.1:n.1265T>C, XM_011512724.2:c.1571T>C, XM_011512724.1:c.1571T>C, XM_017006250.2:c.1571T>C, XM_017006250.1:c.1571T>C, XM_011512725.2:c.164T>C, XM_011512725.1:c.164T>C, XM_047448022.1:c.1571T>C, NP_898884.1:p.Ile524Thr, XP_011511029.1:p.Ile524Thr, XP_011511028.1:p.Ile524Thr, NP_001307460.1:p.Ile476Thr, XP_016861735.1:p.Ile481Thr, XP_016861737.1:p.Ile524Thr, XP_011511020.1:p.Ile470Thr, XP_011511021.1:p.Ile524Thr, XP_016861736.1:p.Ile524Thr, XP_011511026.1:p.Ile524Thr, XP_016861739.1:p.Ile524Thr, XP_011511027.1:p.Ile55Thr, XP_047303978.1:p.Ile524Thr

Select item 14847500077.

rs1484750007 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 3:112204388 (GRCh38)
3:111923235 (GRCh37)
Canonical SPDI:: NC_000003.12:112204387:T:A,NC_000003.12:112204387:T:C
Gene:: SLC9C1 (Varview), LOC124909407 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,downstream_transcript_variant,missense_variant,genic_downstream_transcript_variant,500B_downstream_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.112204388T>A, NC_000003.12:g.112204388T>C, NC_000003.11:g.111923235T>A, NC_000003.11:g.111923235T>C, NW_019805492.1:g.97126T>A, NW_019805492.1:g.97126T>C, NM_183061.3:c.2002A>T, NM_183061.3:c.2002A>G, NM_183061.2:c.2002A>T, NM_183061.2:c.2002A>G, NM_183061.1:c.2002A>T, NM_183061.1:c.2002A>G, NM_001320531.2:c.1858A>T, NM_001320531.2:c.1858A>G, NM_001320531.1:c.1858A>T, NM_001320531.1:c.1858A>G, XM_011512718.2:c.1840A>T, XM_011512718.2:c.1840A>G, XM_011512718.1:c.1840A>T, XM_011512718.1:c.1840A>G, XM_011512719.2:c.2002A>T, XM_011512719.2:c.2002A>G, XM_011512719.1:c.2002A>T, XM_011512719.1:c.2002A>G, XM_017006246.2:c.1873A>T, XM_017006246.2:c.1873A>G, XM_017006246.1:c.1873A>T, XM_017006246.1:c.1873A>G, XM_017006248.2:c.2002A>T, XM_017006248.2:c.2002A>G, XM_017006248.1:c.2002A>T, XM_017006248.1:c.2002A>G, XM_011512724.2:c.2002A>T, XM_011512724.2:c.2002A>G, XM_011512724.1:c.2002A>T, XM_011512724.1:c.2002A>G, XM_017006250.2:c.2002A>T, XM_017006250.2:c.2002A>G, XM_017006250.1:c.2002A>T, XM_017006250.1:c.2002A>G, XM_011512725.2:c.595A>T, XM_011512725.2:c.595A>G, XM_011512725.1:c.595A>T, XM_011512725.1:c.595A>G, XM_047448022.1:c.2002A>T, XM_047448022.1:c.2002A>G, NP_898884.1:p.Lys668Ter, NP_898884.1:p.Lys668Glu, NP_001307460.1:p.Lys620Ter, NP_001307460.1:p.Lys620Glu, XP_011511020.1:p.Lys614Ter, XP_011511020.1:p.Lys614Glu, XP_011511021.1:p.Lys668Ter, XP_011511021.1:p.Lys668Glu, XP_016861735.1:p.Lys625Ter, XP_016861735.1:p.Lys625Glu, XP_016861737.1:p.Lys668Ter, XP_016861737.1:p.Lys668Glu, XP_011511026.1:p.Lys668Ter, XP_011511026.1:p.Lys668Glu, XP_016861739.1:p.Lys668Ter, XP_016861739.1:p.Lys668Glu, XP_011511027.1:p.Lys199Ter, XP_011511027.1:p.Lys199Glu, XP_047303978.1:p.Lys668Ter, XP_047303978.1:p.Lys668Glu

Select item 14847375208.

rs1484737520 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:112221166 (GRCh38)
3:111940013 (GRCh37)
Canonical SPDI:: NC_000003.12:112221165:C:T
Gene:: SLC9C1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.112221166C>T, NC_000003.11:g.111940013C>T, NW_019805492.1:g.113904C>T, NM_183061.3:c.1632G>A, NM_183061.2:c.1632G>A, NM_183061.1:c.1632G>A, XM_011512727.3:c.1632G>A, XM_011512727.2:c.1632G>A, XM_011512727.1:c.1632G>A, XM_011512726.3:c.1632G>A, XM_011512726.2:c.1632G>A, XM_011512726.1:c.1632G>A, NM_001320531.2:c.1488G>A, NM_001320531.1:c.1488G>A, XM_017006246.2:c.1503G>A, XM_017006246.1:c.1503G>A, XM_017006248.2:c.1632G>A, XM_017006248.1:c.1632G>A, XM_011512718.2:c.1470G>A, XM_011512718.1:c.1470G>A, XM_011512719.2:c.1632G>A, XM_011512719.1:c.1632G>A, XM_017006247.2:c.1632G>A, XM_017006247.1:c.1632G>A, NR_135297.2:n.1284G>A, NR_135297.1:n.1326G>A, XM_011512724.2:c.1632G>A, XM_011512724.1:c.1632G>A, XM_017006250.2:c.1632G>A, XM_017006250.1:c.1632G>A, XM_011512725.2:c.225G>A, XM_011512725.1:c.225G>A, XM_047448022.1:c.1632G>A

Select item 14843933079.

rs1484393307 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:112231384 (GRCh38)
3:111950231 (GRCh37)
Canonical SPDI:: NC_000003.12:112231383:T:C
Gene:: SLC9C1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.112231384T>C, NC_000003.11:g.111950231T>C, NW_019805492.1:g.124122T>C, NM_183061.3:c.1549A>G, NM_183061.2:c.1549A>G, NM_183061.1:c.1549A>G, XM_011512727.3:c.1549A>G, XM_011512727.2:c.1549A>G, XM_011512727.1:c.1549A>G, XM_011512726.3:c.1549A>G, XM_011512726.2:c.1549A>G, XM_011512726.1:c.1549A>G, NM_001320531.2:c.1405A>G, NM_001320531.1:c.1405A>G, XM_017006246.2:c.1420A>G, XM_017006246.1:c.1420A>G, XM_017006248.2:c.1549A>G, XM_017006248.1:c.1549A>G, XM_011512718.2:c.1387A>G, XM_011512718.1:c.1387A>G, XM_011512719.2:c.1549A>G, XM_011512719.1:c.1549A>G, XM_017006247.2:c.1549A>G, XM_017006247.1:c.1549A>G, NR_135297.2:n.1201A>G, NR_135297.1:n.1243A>G, XM_011512724.2:c.1549A>G, XM_011512724.1:c.1549A>G, XM_017006250.2:c.1549A>G, XM_017006250.1:c.1549A>G, XM_011512725.2:c.142A>G, XM_011512725.1:c.142A>G, XM_047448022.1:c.1549A>G, NP_898884.1:p.Arg517Gly, XP_011511029.1:p.Arg517Gly, XP_011511028.1:p.Arg517Gly, NP_001307460.1:p.Arg469Gly, XP_016861735.1:p.Arg474Gly, XP_016861737.1:p.Arg517Gly, XP_011511020.1:p.Arg463Gly, XP_011511021.1:p.Arg517Gly, XP_016861736.1:p.Arg517Gly, XP_011511026.1:p.Arg517Gly, XP_016861739.1:p.Arg517Gly, XP_011511027.1:p.Arg48Gly, XP_047303978.1:p.Arg517Gly

Select item 148437241310.

rs1484372413 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:112208310 (GRCh38)
3:111927157 (GRCh37)
Canonical SPDI:: NC_000003.12:112208309:G:A,NC_000003.12:112208309:G:T
Gene:: SLC9C1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,genic_downstream_transcript_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.112208310G>A, NC_000003.12:g.112208310G>T, NC_000003.11:g.111927157G>A, NC_000003.11:g.111927157G>T, NW_019805492.1:g.101048G>A, NW_019805492.1:g.101048G>T, NM_183061.3:c.1854C>T, NM_183061.3:c.1854C>A, NM_183061.2:c.1854C>T, NM_183061.2:c.1854C>A, NM_183061.1:c.1854C>T, NM_183061.1:c.1854C>A, NM_001320531.2:c.1710C>T, NM_001320531.2:c.1710C>A, NM_001320531.1:c.1710C>T, NM_001320531.1:c.1710C>A, XM_011512718.2:c.1692C>T, XM_011512718.2:c.1692C>A, XM_011512718.1:c.1692C>T, XM_011512718.1:c.1692C>A, XM_011512719.2:c.1854C>T, XM_011512719.2:c.1854C>A, XM_011512719.1:c.1854C>T, XM_011512719.1:c.1854C>A, XM_017006247.2:c.1854C>T, XM_017006247.2:c.1854C>A, XM_017006247.1:c.1854C>T, XM_017006247.1:c.1854C>A, XM_017006246.2:c.1725C>T, XM_017006246.2:c.1725C>A, XM_017006246.1:c.1725C>T, XM_017006246.1:c.1725C>A, XM_017006248.2:c.1854C>T, XM_017006248.2:c.1854C>A, XM_017006248.1:c.1854C>T, XM_017006248.1:c.1854C>A, XM_011512724.2:c.1854C>T, XM_011512724.2:c.1854C>A, XM_011512724.1:c.1854C>T, XM_011512724.1:c.1854C>A, XM_017006250.2:c.1854C>T, XM_017006250.2:c.1854C>A, XM_017006250.1:c.1854C>T, XM_017006250.1:c.1854C>A, XM_011512725.2:c.447C>T, XM_011512725.2:c.447C>A, XM_011512725.1:c.447C>T, XM_011512725.1:c.447C>A, XM_047448022.1:c.1854C>T, XM_047448022.1:c.1854C>A, NP_898884.1:p.Tyr618Ter, NP_001307460.1:p.Tyr570Ter, XP_011511020.1:p.Tyr564Ter, XP_011511021.1:p.Tyr618Ter, XP_016861736.1:p.Tyr618Ter, XP_016861735.1:p.Tyr575Ter, XP_016861737.1:p.Tyr618Ter, XP_011511026.1:p.Tyr618Ter, XP_016861739.1:p.Tyr618Ter, XP_011511027.1:p.Tyr149Ter, XP_047303978.1:p.Tyr618Ter

Select item 148415687711.

rs1484156877 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:112231392 (GRCh38)
3:111950239 (GRCh37)
Canonical SPDI:: NC_000003.12:112231391:A:G
Gene:: SLC9C1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.112231392A>G, NC_000003.11:g.111950239A>G, NW_019805492.1:g.124130A>G, NM_183061.3:c.1541T>C, NM_183061.2:c.1541T>C, NM_183061.1:c.1541T>C, XM_011512727.3:c.1541T>C, XM_011512727.2:c.1541T>C, XM_011512727.1:c.1541T>C, XM_011512726.3:c.1541T>C, XM_011512726.2:c.1541T>C, XM_011512726.1:c.1541T>C, NM_001320531.2:c.1397T>C, NM_001320531.1:c.1397T>C, XM_017006246.2:c.1412T>C, XM_017006246.1:c.1412T>C, XM_017006248.2:c.1541T>C, XM_017006248.1:c.1541T>C, XM_011512718.2:c.1379T>C, XM_011512718.1:c.1379T>C, XM_011512719.2:c.1541T>C, XM_011512719.1:c.1541T>C, XM_017006247.2:c.1541T>C, XM_017006247.1:c.1541T>C, NR_135297.2:n.1193T>C, NR_135297.1:n.1235T>C, XM_011512724.2:c.1541T>C, XM_011512724.1:c.1541T>C, XM_017006250.2:c.1541T>C, XM_017006250.1:c.1541T>C, XM_011512725.2:c.134T>C, XM_011512725.1:c.134T>C, XM_047448022.1:c.1541T>C, NP_898884.1:p.Leu514Pro, XP_011511029.1:p.Leu514Pro, XP_011511028.1:p.Leu514Pro, NP_001307460.1:p.Leu466Pro, XP_016861735.1:p.Leu471Pro, XP_016861737.1:p.Leu514Pro, XP_011511020.1:p.Leu460Pro, XP_011511021.1:p.Leu514Pro, XP_016861736.1:p.Leu514Pro, XP_011511026.1:p.Leu514Pro, XP_016861739.1:p.Leu514Pro, XP_011511027.1:p.Leu45Pro, XP_047303978.1:p.Leu514Pro

Select item 148363953412.

rs1483639534 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:112204223 (GRCh38)
3:111923070 (GRCh37)
Canonical SPDI:: NC_000003.12:112204222:A:C
Gene:: SLC9C1 (Varview), LOC124909407 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,downstream_transcript_variant,missense_variant,genic_downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000024/4 (GnomAD_exomes)
C=0.000029/4 (GnomAD)
HGVS:: NC_000003.12:g.112204223A>C, NC_000003.11:g.111923070A>C, NW_019805492.1:g.96961A>C, NM_183061.3:c.2167T>G, NM_183061.2:c.2167T>G, NM_183061.1:c.2167T>G, NM_001320531.2:c.2023T>G, NM_001320531.1:c.2023T>G, XM_011512718.2:c.2005T>G, XM_011512718.1:c.2005T>G, XM_011512719.2:c.2167T>G, XM_011512719.1:c.2167T>G, XM_017006246.2:c.2038T>G, XM_017006246.1:c.2038T>G, XM_017006248.2:c.2167T>G, XM_017006248.1:c.2167T>G, XM_011512724.2:c.2167T>G, XM_011512724.1:c.2167T>G, XM_017006250.2:c.2167T>G, XM_017006250.1:c.2167T>G, XM_011512725.2:c.760T>G, XM_011512725.1:c.760T>G, XM_047448022.1:c.2167T>G, NP_898884.1:p.Phe723Val, NP_001307460.1:p.Phe675Val, XP_011511020.1:p.Phe669Val, XP_011511021.1:p.Phe723Val, XP_016861735.1:p.Phe680Val, XP_016861737.1:p.Phe723Val, XP_011511026.1:p.Phe723Val, XP_016861739.1:p.Phe723Val, XP_011511027.1:p.Phe254Val, XP_047303978.1:p.Phe723Val

Select item 148354451913.

rs1483544519 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:112277851 (GRCh38)
3:111996698 (GRCh37)
Canonical SPDI:: NC_000003.12:112277850:T:A
Gene:: SLC9C1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.00025/4 (TOMMO)
HGVS:: NC_000003.12:g.112277851T>A, NC_000003.11:g.111996698T>A, NW_019805492.1:g.170589T>A, NM_183061.3:c.328A>T, NM_183061.2:c.328A>T, NM_183061.1:c.328A>T, XM_011512727.3:c.328A>T, XM_011512727.2:c.328A>T, XM_011512727.1:c.328A>T, XM_011512726.3:c.328A>T, XM_011512726.2:c.328A>T, XM_011512726.1:c.328A>T, NM_001320531.2:c.328A>T, NM_001320531.1:c.328A>T, XM_011512718.2:c.328A>T, XM_011512718.1:c.328A>T, XM_011512719.2:c.328A>T, XM_011512719.1:c.328A>T, XM_017006247.2:c.328A>T, XM_017006247.1:c.328A>T, XM_017006246.2:c.199A>T, XM_017006246.1:c.199A>T, XM_017006248.2:c.328A>T, XM_017006248.1:c.328A>T, NR_135297.2:n.539A>T, NR_135297.1:n.581A>T, XM_011512724.2:c.328A>T, XM_011512724.1:c.328A>T, XM_017006250.2:c.328A>T, XM_017006250.1:c.328A>T, XM_047448022.1:c.328A>T, NP_898884.1:p.Ile110Phe, XP_011511029.1:p.Ile110Phe, XP_011511028.1:p.Ile110Phe, NP_001307460.1:p.Ile110Phe, XP_011511020.1:p.Ile110Phe, XP_011511021.1:p.Ile110Phe, XP_016861736.1:p.Ile110Phe, XP_016861735.1:p.Ile67Phe, XP_016861737.1:p.Ile110Phe, XP_011511026.1:p.Ile110Phe, XP_016861739.1:p.Ile110Phe, XP_047303978.1:p.Ile110Phe

Select item 148323075514.

rs1483230755 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:112169301 (GRCh38)
3:111888148 (GRCh37)
Canonical SPDI:: NC_000003.12:112169300:A:G
Gene:: SLC9C1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000003.12:g.112169301A>G, NC_000003.11:g.111888148A>G, NW_019805492.1:g.62076A>G, NM_183061.3:c.2947T>C, NM_183061.2:c.2947T>C, NM_183061.1:c.2947T>C, NM_001320531.2:c.2803T>C, NM_001320531.1:c.2803T>C, XM_011512718.2:c.2785T>C, XM_011512718.1:c.2785T>C, XM_011512719.2:c.2776T>C, XM_011512719.1:c.2776T>C, XM_017006247.2:c.2761T>C, XM_017006247.1:c.2761T>C, XM_017006246.2:c.2818T>C, XM_017006246.1:c.2818T>C, XM_017006248.2:c.2551T>C, XM_017006248.1:c.2551T>C, NR_135297.2:n.2217T>C, NR_135297.1:n.2259T>C, XM_011512725.2:c.1540T>C, XM_011512725.1:c.1540T>C, NP_898884.1:p.Tyr983His, NP_001307460.1:p.Tyr935His, XP_011511020.1:p.Tyr929His, XP_011511021.1:p.Tyr926His, XP_016861736.1:p.Tyr921His, XP_016861735.1:p.Tyr940His, XP_016861737.1:p.Tyr851His, XP_011511027.1:p.Tyr514His

Select item 148316902515.

rs1483169025 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:112270038 (GRCh38)
3:111988885 (GRCh37)
Canonical SPDI:: NC_000003.12:112270037:G:C
Gene:: SLC9C1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.112270038G>C, NC_000003.11:g.111988885G>C, NW_019805492.1:g.162776G>C, NM_183061.3:c.653C>G, NM_183061.2:c.653C>G, NM_183061.1:c.653C>G, XM_011512727.3:c.653C>G, XM_011512727.2:c.653C>G, XM_011512727.1:c.653C>G, XM_011512726.3:c.653C>G, XM_011512726.2:c.653C>G, XM_011512726.1:c.653C>G, NM_001320531.2:c.653C>G, NM_001320531.1:c.653C>G, XM_011512719.2:c.653C>G, XM_011512719.1:c.653C>G, XM_017006247.2:c.653C>G, XM_017006247.1:c.653C>G, XM_017006246.2:c.524C>G, XM_017006246.1:c.524C>G, XM_017006248.2:c.653C>G, XM_017006248.1:c.653C>G, XM_011512724.2:c.653C>G, XM_011512724.1:c.653C>G, XM_017006250.2:c.653C>G, XM_017006250.1:c.653C>G, XM_047448022.1:c.653C>G, NP_898884.1:p.Ala218Gly, XP_011511029.1:p.Ala218Gly, XP_011511028.1:p.Ala218Gly, NP_001307460.1:p.Ala218Gly, XP_011511021.1:p.Ala218Gly, XP_016861736.1:p.Ala218Gly, XP_016861735.1:p.Ala175Gly, XP_016861737.1:p.Ala218Gly, XP_011511026.1:p.Ala218Gly, XP_016861739.1:p.Ala218Gly, XP_047303978.1:p.Ala218Gly

Select item 148251370516.

rs1482513705 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 3:112263021 (GRCh38)
3:111981868 (GRCh37)
Canonical SPDI:: NC_000003.12:112263020:A:C,NC_000003.12:112263020:A:G
Gene:: SLC9C1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
HGVS:: NC_000003.12:g.112263021A>C, NC_000003.12:g.112263021A>G, NC_000003.11:g.111981868A>C, NC_000003.11:g.111981868A>G, NW_019805492.1:g.155759A>C, NW_019805492.1:g.155759A>G, NM_183061.3:c.1100T>G, NM_183061.3:c.1100T>C, NM_183061.2:c.1100T>G, NM_183061.2:c.1100T>C, NM_183061.1:c.1100T>G, NM_183061.1:c.1100T>C, XM_011512727.3:c.1100T>G, XM_011512727.3:c.1100T>C, XM_011512727.2:c.1100T>G, XM_011512727.2:c.1100T>C, XM_011512727.1:c.1100T>G, XM_011512727.1:c.1100T>C, XM_011512726.3:c.1100T>G, XM_011512726.3:c.1100T>C, XM_011512726.2:c.1100T>G, XM_011512726.2:c.1100T>C, XM_011512726.1:c.1100T>G, XM_011512726.1:c.1100T>C, NM_001320531.2:c.956T>G, NM_001320531.2:c.956T>C, NM_001320531.1:c.956T>G, NM_001320531.1:c.956T>C, XM_017006246.2:c.971T>G, XM_017006246.2:c.971T>C, XM_017006246.1:c.971T>G, XM_017006246.1:c.971T>C, XM_017006248.2:c.1100T>G, XM_017006248.2:c.1100T>C, XM_017006248.1:c.1100T>G, XM_017006248.1:c.1100T>C, XM_011512718.2:c.938T>G, XM_011512718.2:c.938T>C, XM_011512718.1:c.938T>G, XM_011512718.1:c.938T>C, XM_011512719.2:c.1100T>G, XM_011512719.2:c.1100T>C, XM_011512719.1:c.1100T>G, XM_011512719.1:c.1100T>C, XM_017006247.2:c.1100T>G, XM_017006247.2:c.1100T>C, XM_017006247.1:c.1100T>G, XM_017006247.1:c.1100T>C, XM_011512724.2:c.1100T>G, XM_011512724.2:c.1100T>C, XM_011512724.1:c.1100T>G, XM_011512724.1:c.1100T>C, XM_017006250.2:c.1100T>G, XM_017006250.2:c.1100T>C, XM_017006250.1:c.1100T>G, XM_017006250.1:c.1100T>C, XM_047448022.1:c.1100T>G, XM_047448022.1:c.1100T>C, NP_898884.1:p.Met367Arg, NP_898884.1:p.Met367Thr, XP_011511029.1:p.Met367Arg, XP_011511029.1:p.Met367Thr, XP_011511028.1:p.Met367Arg, XP_011511028.1:p.Met367Thr, NP_001307460.1:p.Met319Arg, NP_001307460.1:p.Met319Thr, XP_016861735.1:p.Met324Arg, XP_016861735.1:p.Met324Thr, XP_016861737.1:p.Met367Arg, XP_016861737.1:p.Met367Thr, XP_011511020.1:p.Met313Arg, XP_011511020.1:p.Met313Thr, XP_011511021.1:p.Met367Arg, XP_011511021.1:p.Met367Thr, XP_016861736.1:p.Met367Arg, XP_016861736.1:p.Met367Thr, XP_011511026.1:p.Met367Arg, XP_011511026.1:p.Met367Thr, XP_016861739.1:p.Met367Arg, XP_016861739.1:p.Met367Thr, XP_047303978.1:p.Met367Arg, XP_047303978.1:p.Met367Thr

Select item 148175595917.

rs1481755959 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 3:112169305 (GRCh38)
3:111888152 (GRCh37)
Canonical SPDI:: NC_000003.12:112169304:G:
Gene:: SLC9C1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.112169305del, NC_000003.11:g.111888152del, NW_019805492.1:g.62080del, NM_183061.3:c.2943del, NM_183061.2:c.2943del, NM_183061.1:c.2943del, NM_001320531.2:c.2799del, NM_001320531.1:c.2799del, XM_011512718.2:c.2781del, XM_011512718.1:c.2781del, XM_011512719.2:c.2772del, XM_011512719.1:c.2772del, XM_017006247.2:c.2757del, XM_017006247.1:c.2757del, XM_017006246.2:c.2814del, XM_017006246.1:c.2814del, XM_017006248.2:c.2547del, XM_017006248.1:c.2547del, NR_135297.2:n.2213del, NR_135297.1:n.2255del, XM_011512725.2:c.1536del, XM_011512725.1:c.1536del, NP_898884.1:p.Leu982fs, NP_001307460.1:p.Leu934fs, XP_011511020.1:p.Leu928fs, XP_011511021.1:p.Leu925fs, XP_016861736.1:p.Leu920fs, XP_016861735.1:p.Leu939fs, XP_016861737.1:p.Leu850fs, XP_011511027.1:p.Leu513fs

Select item 148163112518.

rs1481631125 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:112239994 (GRCh38)
3:111958841 (GRCh37)
Canonical SPDI:: NC_000003.12:112239993:G:A,NC_000003.12:112239993:G:T
Gene:: SLC9C1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.00004/1 (TOMMO)
HGVS:: NC_000003.12:g.112239994G>A, NC_000003.12:g.112239994G>T, NC_000003.11:g.111958841G>A, NC_000003.11:g.111958841G>T, NW_019805492.1:g.132732G>A, NW_019805492.1:g.132732G>T, NM_183061.3:c.1292C>T, NM_183061.3:c.1292C>A, NM_183061.2:c.1292C>T, NM_183061.2:c.1292C>A, NM_183061.1:c.1292C>T, NM_183061.1:c.1292C>A, XM_011512727.3:c.1292C>T, XM_011512727.3:c.1292C>A, XM_011512727.2:c.1292C>T, XM_011512727.2:c.1292C>A, XM_011512727.1:c.1292C>T, XM_011512727.1:c.1292C>A, XM_011512726.3:c.1292C>T, XM_011512726.3:c.1292C>A, XM_011512726.2:c.1292C>T, XM_011512726.2:c.1292C>A, XM_011512726.1:c.1292C>T, XM_011512726.1:c.1292C>A, NM_001320531.2:c.1148C>T, NM_001320531.2:c.1148C>A, NM_001320531.1:c.1148C>T, NM_001320531.1:c.1148C>A, XM_017006246.2:c.1163C>T, XM_017006246.2:c.1163C>A, XM_017006246.1:c.1163C>T, XM_017006246.1:c.1163C>A, XM_017006248.2:c.1292C>T, XM_017006248.2:c.1292C>A, XM_017006248.1:c.1292C>T, XM_017006248.1:c.1292C>A, XM_011512718.2:c.1130C>T, XM_011512718.2:c.1130C>A, XM_011512718.1:c.1130C>T, XM_011512718.1:c.1130C>A, XM_011512719.2:c.1292C>T, XM_011512719.2:c.1292C>A, XM_011512719.1:c.1292C>T, XM_011512719.1:c.1292C>A, XM_017006247.2:c.1292C>T, XM_017006247.2:c.1292C>A, XM_017006247.1:c.1292C>T, XM_017006247.1:c.1292C>A, NR_135297.2:n.944C>T, NR_135297.2:n.944C>A, NR_135297.1:n.986C>T, NR_135297.1:n.986C>A, XM_011512724.2:c.1292C>T, XM_011512724.2:c.1292C>A, XM_011512724.1:c.1292C>T, XM_011512724.1:c.1292C>A, XM_017006250.2:c.1292C>T, XM_017006250.2:c.1292C>A, XM_017006250.1:c.1292C>T, XM_017006250.1:c.1292C>A, XM_011512725.2:c.-116C>T, XM_011512725.2:c.-116C>A, XM_011512725.1:c.-116C>T, XM_011512725.1:c.-116C>A, XM_047448022.1:c.1292C>T, XM_047448022.1:c.1292C>A, NP_898884.1:p.Ala431Val, NP_898884.1:p.Ala431Asp, XP_011511029.1:p.Ala431Val, XP_011511029.1:p.Ala431Asp, XP_011511028.1:p.Ala431Val, XP_011511028.1:p.Ala431Asp, NP_001307460.1:p.Ala383Val, NP_001307460.1:p.Ala383Asp, XP_016861735.1:p.Ala388Val, XP_016861735.1:p.Ala388Asp, XP_016861737.1:p.Ala431Val, XP_016861737.1:p.Ala431Asp, XP_011511020.1:p.Ala377Val, XP_011511020.1:p.Ala377Asp, XP_011511021.1:p.Ala431Val, XP_011511021.1:p.Ala431Asp, XP_016861736.1:p.Ala431Val, XP_016861736.1:p.Ala431Asp, XP_011511026.1:p.Ala431Val, XP_011511026.1:p.Ala431Asp, XP_016861739.1:p.Ala431Val, XP_016861739.1:p.Ala431Asp, XP_047303978.1:p.Ala431Val, XP_047303978.1:p.Ala431Asp

Select item 148040892019.

rs1480408920 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:112278808 (GRCh38)
3:111997655 (GRCh37)
Canonical SPDI:: NC_000003.12:112278807:A:C
Gene:: SLC9C1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.112278808A>C, NC_000003.11:g.111997655A>C, NW_019805492.1:g.171546A>C, NM_183061.3:c.239T>G, NM_183061.2:c.239T>G, NM_183061.1:c.239T>G, XM_011512727.3:c.239T>G, XM_011512727.2:c.239T>G, XM_011512727.1:c.239T>G, XM_011512726.3:c.239T>G, XM_011512726.2:c.239T>G, XM_011512726.1:c.239T>G, NM_001320531.2:c.239T>G, NM_001320531.1:c.239T>G, XM_011512718.2:c.239T>G, XM_011512718.1:c.239T>G, XM_011512719.2:c.239T>G, XM_011512719.1:c.239T>G, XM_017006247.2:c.239T>G, XM_017006247.1:c.239T>G, XM_017006248.2:c.239T>G, XM_017006248.1:c.239T>G, NR_135297.2:n.450T>G, NR_135297.1:n.492T>G, XM_011512724.2:c.239T>G, XM_011512724.1:c.239T>G, XM_017006250.2:c.239T>G, XM_017006250.1:c.239T>G, XM_047448022.1:c.239T>G, NP_898884.1:p.Phe80Cys, XP_011511029.1:p.Phe80Cys, XP_011511028.1:p.Phe80Cys, NP_001307460.1:p.Phe80Cys, XP_011511020.1:p.Phe80Cys, XP_011511021.1:p.Phe80Cys, XP_016861736.1:p.Phe80Cys, XP_016861737.1:p.Phe80Cys, XP_011511026.1:p.Phe80Cys, XP_016861739.1:p.Phe80Cys, XP_047303978.1:p.Phe80Cys

Select item 148033521220.

rs1480335212 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:112269967 (GRCh38)
3:111988814 (GRCh37)
Canonical SPDI:: NC_000003.12:112269966:C:T
Gene:: SLC9C1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.112269967C>T, NC_000003.11:g.111988814C>T, NW_019805492.1:g.162705C>T, NM_183061.3:c.724G>A, NM_183061.2:c.724G>A, NM_183061.1:c.724G>A, XM_011512727.3:c.724G>A, XM_011512727.2:c.724G>A, XM_011512727.1:c.724G>A, XM_011512726.3:c.724G>A, XM_011512726.2:c.724G>A, XM_011512726.1:c.724G>A, NM_001320531.2:c.724G>A, NM_001320531.1:c.724G>A, XM_011512719.2:c.724G>A, XM_011512719.1:c.724G>A, XM_017006247.2:c.724G>A, XM_017006247.1:c.724G>A, XM_017006246.2:c.595G>A, XM_017006246.1:c.595G>A, XM_017006248.2:c.724G>A, XM_017006248.1:c.724G>A, XM_011512724.2:c.724G>A, XM_011512724.1:c.724G>A, XM_017006250.2:c.724G>A, XM_017006250.1:c.724G>A, XM_047448022.1:c.724G>A, NP_898884.1:p.Val242Ile, XP_011511029.1:p.Val242Ile, XP_011511028.1:p.Val242Ile, NP_001307460.1:p.Val242Ile, XP_011511021.1:p.Val242Ile, XP_016861736.1:p.Val242Ile, XP_016861735.1:p.Val199Ile, XP_016861737.1:p.Val242Ile, XP_011511026.1:p.Val242Ile, XP_016861739.1:p.Val242Ile, XP_047303978.1:p.Val242Ile

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