SNP Links for Protein (Select 475808427) - SNP

Select item 14907850871.

rs1490785087 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:130508726 (GRCh38)
2:131266299 (GRCh37)
Canonical SPDI:: NC_000002.12:130508725:G:T
Gene:: POTEI (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.130508726G>T, NC_000002.11:g.131266299G>T, XM_017004732.3:c.510C>A, XM_017004732.2:c.510C>A, XM_017004732.1:c.510C>A, XM_024453046.2:c.510C>A, XM_024453046.1:c.510C>A, NM_001277406.2:c.510C>A, NM_001277406.1:c.510C>A, NM_001371926.1:c.510C>A, XP_016860221.1:p.Asp170Glu, XP_024308814.1:p.Asp170Glu, NP_001264335.1:p.Asp170Glu, NP_001358855.1:p.Asp170Glu

Select item 14905228492.

rs1490522849 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:130463949 (GRCh38)
2:131221522 (GRCh37)
Canonical SPDI:: NC_000002.12:130463948:G:T
Gene:: POTEI (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.130463949G>T, NC_000002.11:g.131221522G>T, XM_017004732.3:c.2125C>A, XM_017004732.2:c.2125C>A, XM_017004732.1:c.2125C>A, XM_017004734.3:c.841C>A, XM_017004734.2:c.841C>A, XM_017004734.1:c.841C>A, XM_024453046.2:c.2095C>A, XM_024453046.1:c.2095C>A, NM_001277406.2:c.2095C>A, NM_001277406.1:c.2095C>A, XM_017004733.2:c.895C>A, XM_017004733.1:c.895C>A, NM_001371926.1:c.2161C>A, XP_016860221.1:p.Leu709Ile, XP_016860223.1:p.Leu281Ile, XP_024308814.1:p.Leu699Ile, NP_001264335.1:p.Leu699Ile, XP_016860222.1:p.Leu299Ile, NP_001358855.1:p.Leu721Ile

Select item 14897553063.

rs1489755306 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:130462982 (GRCh38)
2:131220555 (GRCh37)
Canonical SPDI:: NC_000002.12:130462981:G:A
Gene:: POTEI (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.00025/3 (ALFA)
HGVS:: NC_000002.12:g.130462982G>A, NC_000002.11:g.131220555G>A, XM_017004732.3:c.3092C>T, XM_017004732.2:c.3092C>T, XM_017004732.1:c.3092C>T, XM_017004734.3:c.1808C>T, XM_017004734.2:c.1808C>T, XM_017004734.1:c.1808C>T, XM_024453046.2:c.3062C>T, XM_024453046.1:c.3062C>T, NM_001277406.2:c.3062C>T, NM_001277406.1:c.3062C>T, XM_017004733.2:c.1862C>T, XM_017004733.1:c.1862C>T, NM_001371926.1:c.3128C>T, XP_016860221.1:p.Ala1031Val, XP_016860223.1:p.Ala603Val, XP_024308814.1:p.Ala1021Val, NP_001264335.1:p.Ala1021Val, XP_016860222.1:p.Ala621Val, NP_001358855.1:p.Ala1043Val

Select item 14893699304.

rs1489369930 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:130463389 (GRCh38)
2:131220962 (GRCh37)
Canonical SPDI:: NC_000002.12:130463388:C:G
Gene:: POTEI (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00005/3 (GnomAD_exomes)
HGVS:: NC_000002.12:g.130463389C>G, NC_000002.11:g.131220962C>G, XM_017004732.3:c.2685G>C, XM_017004732.2:c.2685G>C, XM_017004732.1:c.2685G>C, XM_017004734.3:c.1401G>C, XM_017004734.2:c.1401G>C, XM_017004734.1:c.1401G>C, XM_024453046.2:c.2655G>C, XM_024453046.1:c.2655G>C, NM_001277406.2:c.2655G>C, NM_001277406.1:c.2655G>C, XM_017004733.2:c.1455G>C, XM_017004733.1:c.1455G>C, NM_001371926.1:c.2721G>C

Select item 14877528185.

rs1487752818 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:130463193 (GRCh38)
2:131220766 (GRCh37)
Canonical SPDI:: NC_000002.12:130463192:C:A
Gene:: POTEI (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.130463193C>A, NC_000002.11:g.131220766C>A, XM_017004732.3:c.2881G>T, XM_017004732.2:c.2881G>T, XM_017004732.1:c.2881G>T, XM_017004734.3:c.1597G>T, XM_017004734.2:c.1597G>T, XM_017004734.1:c.1597G>T, XM_024453046.2:c.2851G>T, XM_024453046.1:c.2851G>T, NM_001277406.2:c.2851G>T, NM_001277406.1:c.2851G>T, XM_017004733.2:c.1651G>T, XM_017004733.1:c.1651G>T, NM_001371926.1:c.2917G>T, XP_016860221.1:p.Gly961Cys, XP_016860223.1:p.Gly533Cys, XP_024308814.1:p.Gly951Cys, NP_001264335.1:p.Gly951Cys, XP_016860222.1:p.Gly551Cys, NP_001358855.1:p.Gly973Cys

Select item 14877359056.

rs1487735905 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:130463127 (GRCh38)
2:131220700 (GRCh37)
Canonical SPDI:: NC_000002.12:130463126:C:G
Gene:: POTEI (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.00007/1 (ALFA)
G=0.00004/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.130463127C>G, NC_000002.11:g.131220700C>G, XM_017004732.3:c.2947G>C, XM_017004732.2:c.2947G>C, XM_017004732.1:c.2947G>C, XM_017004734.3:c.1663G>C, XM_017004734.2:c.1663G>C, XM_017004734.1:c.1663G>C, XM_024453046.2:c.2917G>C, XM_024453046.1:c.2917G>C, NM_001277406.2:c.2917G>C, NM_001277406.1:c.2917G>C, XM_017004733.2:c.1717G>C, XM_017004733.1:c.1717G>C, NM_001371926.1:c.2983G>C, XP_016860221.1:p.Gly983Arg, XP_016860223.1:p.Gly555Arg, XP_024308814.1:p.Gly973Arg, NP_001264335.1:p.Gly973Arg, XP_016860222.1:p.Gly573Arg, NP_001358855.1:p.Gly995Arg

Select item 14873966747.

rs1487396674 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:130474482 (GRCh38)
2:131232055 (GRCh37)
Canonical SPDI:: NC_000002.12:130474481:A:G,NC_000002.12:130474481:A:T
Gene:: POTEI (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.00007/1 (TOMMO)
HGVS:: NC_000002.12:g.130474482A>G, NC_000002.12:g.130474482A>T, NC_000002.11:g.131232055A>G, NC_000002.11:g.131232055A>T, XM_017004732.3:c.1704T>C, XM_017004732.3:c.1704T>A, XM_017004732.2:c.1704T>C, XM_017004732.2:c.1704T>A, XM_017004732.1:c.1704T>C, XM_017004732.1:c.1704T>A, XM_017004734.3:c.420T>C, XM_017004734.3:c.420T>A, XM_017004734.2:c.420T>C, XM_017004734.2:c.420T>A, XM_017004734.1:c.420T>C, XM_017004734.1:c.420T>A, XM_024453046.2:c.1674T>C, XM_024453046.2:c.1674T>A, XM_024453046.1:c.1674T>C, XM_024453046.1:c.1674T>A, NM_001277406.2:c.1674T>C, NM_001277406.2:c.1674T>A, NM_001277406.1:c.1674T>C, NM_001277406.1:c.1674T>A, XM_017004733.2:c.474T>C, XM_017004733.2:c.474T>A, XM_017004733.1:c.474T>C, XM_017004733.1:c.474T>A, NM_001371926.1:c.1740T>C, NM_001371926.1:c.1740T>A, XP_016860221.1:p.Asn568Lys, XP_016860223.1:p.Asn140Lys, XP_024308814.1:p.Asn558Lys, NP_001264335.1:p.Asn558Lys, XP_016860222.1:p.Asn158Lys, NP_001358855.1:p.Asn580Lys

Select item 14867058548.

rs1486705854 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:130482047 (GRCh38)
2:131239620 (GRCh37)
Canonical SPDI:: NC_000002.12:130482046:T:C
Gene:: POTEI (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.130482047T>C, NC_000002.11:g.131239620T>C, XM_017004732.3:c.1466A>G, XM_017004732.2:c.1466A>G, XM_017004732.1:c.1466A>G, XM_017004734.3:c.182A>G, XM_017004734.2:c.182A>G, XM_017004734.1:c.182A>G, XM_024453046.2:c.1436A>G, XM_024453046.1:c.1436A>G, NM_001277406.2:c.1436A>G, NM_001277406.1:c.1436A>G, XM_017004733.2:c.236A>G, XM_017004733.1:c.236A>G, NM_001371926.1:c.1502A>G, XP_016860221.1:p.Lys489Arg, XP_016860223.1:p.Lys61Arg, XP_024308814.1:p.Lys479Arg, NP_001264335.1:p.Lys479Arg, XP_016860222.1:p.Lys79Arg, NP_001358855.1:p.Lys501Arg

Select item 14860087389.

rs1486008738 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AACAAATGG [Show Flanks]
Chromosome:: 2:130508955 (GRCh38)
2:131266529 (GRCh37)
Canonical SPDI:: NC_000002.12:130508955:G:GAACAAATGG
Gene:: POTEI (Varview)
Functional Consequence:: genic_upstream_transcript_variant,inframe_insertion,coding_sequence_variant
HGVS:: NC_000002.12:g.130508956_130508957insAACAAATGG, NC_000002.11:g.131266529_131266530insAACAAATGG, XM_017004732.3:c.280_281insCATTTGTTC, XM_017004732.2:c.280_281insCATTTGTTC, XM_017004732.1:c.280_281insCATTTGTTC, XM_024453046.2:c.280_281insCATTTGTTC, XM_024453046.1:c.280_281insCATTTGTTC, NM_001277406.2:c.280_281insCATTTGTTC, NM_001277406.1:c.280_281insCATTTGTTC, NM_001371926.1:c.280_281insCATTTGTTC, XP_016860221.1:p.Leu94_Arg95insProPheVal, XP_024308814.1:p.Leu94_Arg95insProPheVal, NP_001264335.1:p.Leu94_Arg95insProPheVal, NP_001358855.1:p.Leu94_Arg95insProPheVal

Select item 148521935310.

rs1485219353 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:130488194 (GRCh38)
2:131245767 (GRCh37)
Canonical SPDI:: NC_000002.12:130488193:T:C
Gene:: POTEI (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.00025/3 (ALFA)
HGVS:: NC_000002.12:g.130488194T>C, NC_000002.11:g.131245767T>C, XM_017004732.3:c.1277A>G, XM_017004732.2:c.1277A>G, XM_017004732.1:c.1277A>G, XM_017004734.3:c.-8A>G, XM_017004734.2:c.-8A>G, XM_017004734.1:c.-8A>G, XM_024453046.2:c.1247A>G, XM_024453046.1:c.1247A>G, NM_001277406.2:c.1247A>G, NM_001277406.1:c.1247A>G, XM_017004733.2:c.47A>G, XM_017004733.1:c.47A>G, NM_001371926.1:c.1247A>G, XP_016860221.1:p.Glu426Gly, XP_024308814.1:p.Glu416Gly, NP_001264335.1:p.Glu416Gly, XP_016860222.1:p.Glu16Gly, NP_001358855.1:p.Glu416Gly

Select item 148336763611.

rs1483367636 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 2:130509064 (GRCh38)
2:131266637 (GRCh37)
Canonical SPDI:: NC_000002.12:130509063:TG:
Gene:: POTEI (Varview)
Functional Consequence:: genic_upstream_transcript_variant,frameshift_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.130509064_130509065del, NC_000002.11:g.131266637_131266638del, XM_017004732.3:c.171_172del, XM_017004732.2:c.171_172del, XM_017004732.1:c.171_172del, XM_024453046.2:c.171_172del, XM_024453046.1:c.171_172del, NM_001277406.2:c.171_172del, NM_001277406.1:c.171_172del, NM_001371926.1:c.171_172del, XP_016860221.1:p.Arg58fs, XP_024308814.1:p.Arg58fs, NP_001264335.1:p.Arg58fs, NP_001358855.1:p.Arg58fs

Select item 148281986012.

rs1482819860 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:130496565 (GRCh38)
2:131254138 (GRCh37)
Canonical SPDI:: NC_000002.12:130496564:T:C
Gene:: POTEI (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.00002/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.130496565T>C, NC_000002.11:g.131254138T>C, XM_017004732.3:c.1143A>G, XM_017004732.2:c.1143A>G, XM_017004732.1:c.1143A>G, XM_017004734.3:c.-26A>G, XM_017004734.2:c.-26A>G, XM_017004734.1:c.-26A>G, XM_024453046.2:c.1113A>G, XM_024453046.1:c.1113A>G, NM_001277406.2:c.1113A>G, NM_001277406.1:c.1113A>G, XM_017004733.2:c.-17A>G, XM_017004733.1:c.-17A>G, NM_001371926.1:c.1113A>G

Select item 148275570513.

rs1482755705 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:130508905 (GRCh38)
2:131266478 (GRCh37)
Canonical SPDI:: NC_000002.12:130508904:C:A
Gene:: POTEI (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000084/1 (ALFA)
A=0.000008/1 (GnomAD)
HGVS:: NC_000002.12:g.130508905C>A, NC_000002.11:g.131266478C>A, XM_017004732.3:c.331G>T, XM_017004732.2:c.331G>T, XM_017004732.1:c.331G>T, XM_024453046.2:c.331G>T, XM_024453046.1:c.331G>T, NM_001277406.2:c.331G>T, NM_001277406.1:c.331G>T, NM_001371926.1:c.331G>T, XP_016860221.1:p.Gly111Trp, XP_024308814.1:p.Gly111Trp, NP_001264335.1:p.Gly111Trp, NP_001358855.1:p.Gly111Trp

Select item 148243782614.

rs1482437826 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:130488088 (GRCh38)
2:131245661 (GRCh37)
Canonical SPDI:: NC_000002.12:130488087:C:A,NC_000002.12:130488087:C:T
Gene:: POTEI (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00156/10 (1000Genomes)
A=0.0042/7 (Korea1K)
A=0.0083/22 (KOREAN)
A=0.01123/164 (TOMMO)
HGVS:: NC_000002.12:g.130488088C>A, NC_000002.12:g.130488088C>T, NC_000002.11:g.131245661C>A, NC_000002.11:g.131245661C>T, XM_017004732.3:c.1383G>T, XM_017004732.3:c.1383G>A, XM_017004732.2:c.1383G>T, XM_017004732.2:c.1383G>A, XM_017004732.1:c.1383G>T, XM_017004732.1:c.1383G>A, XM_017004734.3:c.99G>T, XM_017004734.3:c.99G>A, XM_017004734.2:c.99G>T, XM_017004734.2:c.99G>A, XM_017004734.1:c.99G>T, XM_017004734.1:c.99G>A, XM_024453046.2:c.1353G>T, XM_024453046.2:c.1353G>A, XM_024453046.1:c.1353G>T, XM_024453046.1:c.1353G>A, NM_001277406.2:c.1353G>T, NM_001277406.2:c.1353G>A, NM_001277406.1:c.1353G>T, NM_001277406.1:c.1353G>A, XM_017004733.2:c.153G>T, XM_017004733.2:c.153G>A, XM_017004733.1:c.153G>T, XM_017004733.1:c.153G>A, NM_001371926.1:c.1353G>T, NM_001371926.1:c.1353G>A, XP_016860221.1:p.Lys461Asn, XP_016860223.1:p.Lys33Asn, XP_024308814.1:p.Lys451Asn, NP_001264335.1:p.Lys451Asn, XP_016860222.1:p.Lys51Asn, NP_001358855.1:p.Lys451Asn

Select item 148136768615.

rs1481367686 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 2:130500621 (GRCh38)
2:131258194 (GRCh37)
Canonical SPDI:: NC_000002.12:130500620:GT:
Gene:: POTEI (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,frameshift_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.130500621_130500622del, NC_000002.11:g.131258194_131258195del, XM_017004732.3:c.861_862del, XM_017004732.2:c.861_862del, XM_017004732.1:c.861_862del, XM_024453046.2:c.831_832del, XM_024453046.1:c.831_832del, NM_001277406.2:c.831_832del, NM_001277406.1:c.831_832del, NM_001371926.1:c.831_832del, XP_016860221.1:p.Leu288fs, XP_024308814.1:p.Leu278fs, NP_001264335.1:p.Leu278fs, NP_001358855.1:p.Leu278fs

Select item 148084944016.

rs1480849440 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 2:130463238 (GRCh38)
2:131220811 (GRCh37)
Canonical SPDI:: NC_000002.12:130463237:G:C,NC_000002.12:130463237:G:T
Gene:: POTEI (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.130463238G>C, NC_000002.12:g.130463238G>T, NC_000002.11:g.131220811G>C, NC_000002.11:g.131220811G>T, XM_017004732.3:c.2836C>G, XM_017004732.3:c.2836C>A, XM_017004732.2:c.2836C>G, XM_017004732.2:c.2836C>A, XM_017004732.1:c.2836C>G, XM_017004732.1:c.2836C>A, XM_017004734.3:c.1552C>G, XM_017004734.3:c.1552C>A, XM_017004734.2:c.1552C>G, XM_017004734.2:c.1552C>A, XM_017004734.1:c.1552C>G, XM_017004734.1:c.1552C>A, XM_024453046.2:c.2806C>G, XM_024453046.2:c.2806C>A, XM_024453046.1:c.2806C>G, XM_024453046.1:c.2806C>A, NM_001277406.2:c.2806C>G, NM_001277406.2:c.2806C>A, NM_001277406.1:c.2806C>G, NM_001277406.1:c.2806C>A, XM_017004733.2:c.1606C>G, XM_017004733.2:c.1606C>A, XM_017004733.1:c.1606C>G, XM_017004733.1:c.1606C>A, NM_001371926.1:c.2872C>G, NM_001371926.1:c.2872C>A, XP_016860221.1:p.Leu946Val, XP_016860221.1:p.Leu946Ile, XP_016860223.1:p.Leu518Val, XP_016860223.1:p.Leu518Ile, XP_024308814.1:p.Leu936Val, XP_024308814.1:p.Leu936Ile, NP_001264335.1:p.Leu936Val, NP_001264335.1:p.Leu936Ile, XP_016860222.1:p.Leu536Val, XP_016860222.1:p.Leu536Ile, NP_001358855.1:p.Leu958Val, NP_001358855.1:p.Leu958Ile

Select item 148033806917.

rs1480338069 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:130463227 (GRCh38)
2:131220800 (GRCh37)
Canonical SPDI:: NC_000002.12:130463226:G:A
Gene:: POTEI (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.130463227G>A, NC_000002.11:g.131220800G>A, XM_017004732.3:c.2847C>T, XM_017004732.2:c.2847C>T, XM_017004732.1:c.2847C>T, XM_017004734.3:c.1563C>T, XM_017004734.2:c.1563C>T, XM_017004734.1:c.1563C>T, XM_024453046.2:c.2817C>T, XM_024453046.1:c.2817C>T, NM_001277406.2:c.2817C>T, NM_001277406.1:c.2817C>T, XM_017004733.2:c.1617C>T, XM_017004733.1:c.1617C>T, NM_001371926.1:c.2883C>T

Select item 147931938418.

rs1479319384 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:130463577 (GRCh38)
2:131221150 (GRCh37)
Canonical SPDI:: NC_000002.12:130463576:T:C
Gene:: POTEI (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.130463577T>C, NC_000002.11:g.131221150T>C, XM_017004732.3:c.2497A>G, XM_017004732.2:c.2497A>G, XM_017004732.1:c.2497A>G, XM_017004734.3:c.1213A>G, XM_017004734.2:c.1213A>G, XM_017004734.1:c.1213A>G, XM_024453046.2:c.2467A>G, XM_024453046.1:c.2467A>G, NM_001277406.2:c.2467A>G, NM_001277406.1:c.2467A>G, XM_017004733.2:c.1267A>G, XM_017004733.1:c.1267A>G, NM_001371926.1:c.2533A>G, XP_016860221.1:p.Met833Val, XP_016860223.1:p.Met405Val, XP_024308814.1:p.Met823Val, NP_001264335.1:p.Met823Val, XP_016860222.1:p.Met423Val, NP_001358855.1:p.Met845Val

Select item 147922692719.

rs1479226927 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:130462829 (GRCh38)
2:131220402 (GRCh37)
Canonical SPDI:: NC_000002.12:130462828:C:T
Gene:: POTEI (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00008/1 (ALFA)
T=0.00003/1 (GnomAD)
T=0.00018/5 (TOMMO)
T=0.00069/1 (GnomAD_exomes)
T=0.00281/18 (1000Genomes)
HGVS:: NC_000002.12:g.130462829C>T, NC_000002.11:g.131220402C>T, XM_017004732.3:c.3245G>A, XM_017004732.2:c.3245G>A, XM_017004732.1:c.3245G>A, XM_017004734.3:c.1961G>A, XM_017004734.2:c.1961G>A, XM_017004734.1:c.1961G>A, XM_024453046.2:c.3215G>A, XM_024453046.1:c.3215G>A, NM_001277406.2:c.3215G>A, NM_001277406.1:c.3215G>A, XM_017004733.2:c.2015G>A, XM_017004733.1:c.2015G>A, NM_001371926.1:c.3281G>A, XP_016860221.1:p.Arg1082His, XP_016860223.1:p.Arg654His, XP_024308814.1:p.Arg1072His, NP_001264335.1:p.Arg1072His, XP_016860222.1:p.Arg672His, NP_001358855.1:p.Arg1094His

Select item 147876833920.

rs1478768339 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:130463531 (GRCh38)
2:131221104 (GRCh37)
Canonical SPDI:: NC_000002.12:130463530:G:T
Gene:: POTEI (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.130463531G>T, NC_000002.11:g.131221104G>T, XM_017004732.3:c.2543C>A, XM_017004732.2:c.2543C>A, XM_017004732.1:c.2543C>A, XM_017004734.3:c.1259C>A, XM_017004734.2:c.1259C>A, XM_017004734.1:c.1259C>A, XM_024453046.2:c.2513C>A, XM_024453046.1:c.2513C>A, NM_001277406.2:c.2513C>A, NM_001277406.1:c.2513C>A, XM_017004733.2:c.1313C>A, XM_017004733.1:c.1313C>A, NM_001371926.1:c.2579C>A, XP_016860221.1:p.Ala848Asp, XP_016860223.1:p.Ala420Asp, XP_024308814.1:p.Ala838Asp, NP_001264335.1:p.Ala838Asp, XP_016860222.1:p.Ala438Asp, NP_001358855.1:p.Ala860Asp

dbSNP

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Result Filters

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Items: 1 to 20 of 963

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