SNP Links for Protein (Select 10835121) - SNP

Select item 14890780451.

rs1489078045 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:155295687 (GRCh38)
1:155265478 (GRCh37)
Canonical SPDI:: NC_000001.11:155295686:T:C
Gene:: PKLR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.155295687T>C, NC_000001.10:g.155265478T>C, NG_011677.1:g.10748A>G, NM_000298.6:c.353A>G, NM_000298.5:c.353A>G, NM_181871.4:c.260A>G, NM_181871.3:c.260A>G, NW_003315906.1:g.100710T>C, XM_006711386.5:c.161A>G, XM_006711386.4:c.161A>G, XM_006711386.3:c.161A>G, XM_006711386.2:c.161A>G, XM_006711386.1:c.161A>G, XM_047422592.1:c.353A>G, XM_011509640.4:c.161A>G, XM_011509640.3:c.161A>G, XM_011509640.2:c.161A>G, XM_011509640.1:c.161A>G, XM_047422591.1:c.353A>G, XM_017001493.1:c.353A>G, NP_000289.1:p.Asn118Ser, NP_870986.1:p.Asn87Ser, XP_006711449.1:p.Asn54Ser, XP_047278548.1:p.Asn118Ser, XP_011507942.1:p.Asn54Ser, XP_047278547.1:p.Asn118Ser, XP_016856982.1:p.Asn118Ser

Select item 14856869792.

rs1485686979 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:155293312 (GRCh38)
1:155263103 (GRCh37)
Canonical SPDI:: NC_000001.11:155293311:T:C
Gene:: PKLR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.155293312T>C, NC_000001.10:g.155263103T>C, NG_011677.1:g.13123A>G, NM_000298.6:c.1301A>G, NM_000298.5:c.1301A>G, NM_181871.4:c.1208A>G, NM_181871.3:c.1208A>G, NW_003315906.1:g.98335T>C, XM_006711386.5:c.1109A>G, XM_006711386.4:c.1109A>G, XM_006711386.3:c.1109A>G, XM_006711386.2:c.1109A>G, XM_006711386.1:c.1109A>G, XM_011509640.4:c.1109A>G, XM_011509640.3:c.1109A>G, XM_011509640.2:c.1109A>G, XM_011509640.1:c.1109A>G, XM_047422592.1:c.1301A>G, XM_047422591.1:c.1301A>G, NP_000289.1:p.His434Arg, NP_870986.1:p.His403Arg, XP_006711449.1:p.His370Arg, XP_011507942.1:p.His370Arg, XP_047278548.1:p.His434Arg, XP_047278547.1:p.His434Arg

Select item 14856174553.

rs1485617455 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:155295235 (GRCh38)
1:155265026 (GRCh37)
Canonical SPDI:: NC_000001.11:155295234:C:T
Gene:: PKLR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.155295235C>T, NC_000001.10:g.155265026C>T, NG_011677.1:g.11200G>A, NM_000298.6:c.575G>A, NM_000298.5:c.575G>A, NM_181871.4:c.482G>A, NM_181871.3:c.482G>A, NW_003315906.1:g.100258C>T, XM_006711386.5:c.383G>A, XM_006711386.4:c.383G>A, XM_006711386.3:c.383G>A, XM_006711386.2:c.383G>A, XM_006711386.1:c.383G>A, XM_047422592.1:c.575G>A, XM_011509640.4:c.383G>A, XM_011509640.3:c.383G>A, XM_011509640.2:c.383G>A, XM_011509640.1:c.383G>A, XM_047422591.1:c.575G>A, XM_017001493.1:c.575G>A, NP_000289.1:p.Arg192Gln, NP_870986.1:p.Arg161Gln, XP_006711449.1:p.Arg128Gln, XP_047278548.1:p.Arg192Gln, XP_011507942.1:p.Arg128Gln, XP_047278547.1:p.Arg192Gln, XP_016856982.1:p.Arg192Gln

Select item 14845115524.

rs1484511552 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:155293308 (GRCh38)
1:155263099 (GRCh37)
Canonical SPDI:: NC_000001.11:155293307:C:G
Gene:: PKLR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.155293308C>G, NC_000001.10:g.155263099C>G, NG_011677.1:g.13127G>C, NM_000298.6:c.1305G>C, NM_000298.5:c.1305G>C, NM_181871.4:c.1212G>C, NM_181871.3:c.1212G>C, NW_003315906.1:g.98331C>G, XM_006711386.5:c.1113G>C, XM_006711386.4:c.1113G>C, XM_006711386.3:c.1113G>C, XM_006711386.2:c.1113G>C, XM_006711386.1:c.1113G>C, XM_011509640.4:c.1113G>C, XM_011509640.3:c.1113G>C, XM_011509640.2:c.1113G>C, XM_011509640.1:c.1113G>C, XM_047422591.1:c.1305G>C, XM_047422592.1:c.1305G>C

Select item 14843884135.

rs1484388413 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:155300263 (GRCh38)
1:155270054 (GRCh37)
Canonical SPDI:: NC_000001.11:155300262:G:A
Gene:: PKLR (Varview)
Functional Consequence:: intron_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000014/3 (GnomAD_exomes)
HGVS:: NC_000001.11:g.155300263G>A, NC_000001.10:g.155270054G>A, NG_011677.1:g.6172C>T, NM_000298.6:c.118C>T, NM_000298.5:c.118C>T, NM_181871.4:c.25C>T, NM_181871.3:c.25C>T, NW_003315906.1:g.105286G>A, XM_047422592.1:c.118C>T, XM_011509640.4:c.-75C>T, XM_011509640.3:c.-75C>T, XM_011509640.2:c.-75C>T, XM_011509640.1:c.-75C>T, XM_047422591.1:c.118C>T, XM_017001493.1:c.118C>T, NP_000289.1:p.Arg40Trp, NP_870986.1:p.Arg9Trp, XP_047278548.1:p.Arg40Trp, XP_047278547.1:p.Arg40Trp, XP_016856982.1:p.Arg40Trp

Select item 14827037906.

rs1482703790 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:155294237 (GRCh38)
1:155264028 (GRCh37)
Canonical SPDI:: NC_000001.11:155294236:G:A
Gene:: PKLR (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.0001/1 (ALFA)
HGVS:: NC_000001.11:g.155294237G>A, NC_000001.10:g.155264028G>A, NG_011677.1:g.12198C>T, NM_000298.6:c.1114C>T, NM_000298.5:c.1114C>T, NM_181871.4:c.1021C>T, NM_181871.3:c.1021C>T, NW_003315906.1:g.99260G>A, XM_006711386.5:c.922C>T, XM_006711386.4:c.922C>T, XM_006711386.3:c.922C>T, XM_006711386.2:c.922C>T, XM_006711386.1:c.922C>T, XM_047422592.1:c.1114C>T, XM_011509640.4:c.922C>T, XM_011509640.3:c.922C>T, XM_011509640.2:c.922C>T, XM_011509640.1:c.922C>T, XM_047422591.1:c.1114C>T, XM_017001493.1:c.1114C>T, NP_000289.1:p.Gln372Ter, NP_870986.1:p.Gln341Ter, XP_006711449.1:p.Gln308Ter, XP_047278548.1:p.Gln372Ter, XP_011507942.1:p.Gln308Ter, XP_047278547.1:p.Gln372Ter, XP_016856982.1:p.Gln372Ter

Select item 14823478227.

rs1482347822 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:155294288 (GRCh38)
1:155264079 (GRCh37)
Canonical SPDI:: NC_000001.11:155294287:T:C
Gene:: PKLR (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000001.11:g.155294288T>C, NC_000001.10:g.155264079T>C, NG_011677.1:g.12147A>G, NM_000298.6:c.1063A>G, NM_000298.5:c.1063A>G, NM_181871.4:c.970A>G, NM_181871.3:c.970A>G, NW_003315906.1:g.99311T>C, XM_006711386.5:c.871A>G, XM_006711386.4:c.871A>G, XM_006711386.3:c.871A>G, XM_006711386.2:c.871A>G, XM_006711386.1:c.871A>G, XM_047422592.1:c.1063A>G, XM_011509640.4:c.871A>G, XM_011509640.3:c.871A>G, XM_011509640.2:c.871A>G, XM_011509640.1:c.871A>G, XM_047422591.1:c.1063A>G, XM_017001493.1:c.1063A>G, NP_000289.1:p.Met355Val, NP_870986.1:p.Met324Val, XP_006711449.1:p.Met291Val, XP_047278548.1:p.Met355Val, XP_011507942.1:p.Met291Val, XP_047278547.1:p.Met355Val, XP_016856982.1:p.Met355Val

Select item 14819670368.

rs1481967036 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:155300261 (GRCh38)
1:155270052 (GRCh37)
Canonical SPDI:: NC_000001.11:155300260:C:G,NC_000001.11:155300260:C:T
Gene:: PKLR (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.155300261C>G, NC_000001.11:g.155300261C>T, NC_000001.10:g.155270052C>G, NC_000001.10:g.155270052C>T, NG_011677.1:g.6174G>C, NG_011677.1:g.6174G>A, NM_000298.6:c.120G>C, NM_000298.6:c.120G>A, NM_000298.5:c.120G>C, NM_000298.5:c.120G>A, NM_181871.4:c.27G>C, NM_181871.4:c.27G>A, NM_181871.3:c.27G>C, NM_181871.3:c.27G>A, NW_003315906.1:g.105284C>G, NW_003315906.1:g.105284C>T, XM_047422592.1:c.120G>C, XM_047422592.1:c.120G>A, XM_011509640.4:c.-73G>C, XM_011509640.4:c.-73G>A, XM_011509640.3:c.-73G>C, XM_011509640.3:c.-73G>A, XM_011509640.2:c.-73G>C, XM_011509640.2:c.-73G>A, XM_011509640.1:c.-73G>C, XM_011509640.1:c.-73G>A, XM_047422591.1:c.120G>C, XM_047422591.1:c.120G>A, XM_017001493.1:c.120G>C, XM_017001493.1:c.120G>A

Select item 14808687119.

rs1480868711 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:155294319 (GRCh38)
1:155264110 (GRCh37)
Canonical SPDI:: NC_000001.11:155294318:G:A
Gene:: PKLR (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.155294319G>A, NC_000001.10:g.155264110G>A, NG_011677.1:g.12116C>T, NM_000298.6:c.1032C>T, NM_000298.5:c.1032C>T, NM_181871.4:c.939C>T, NM_181871.3:c.939C>T, NW_003315906.1:g.99342G>A, XM_006711386.5:c.840C>T, XM_006711386.4:c.840C>T, XM_006711386.3:c.840C>T, XM_006711386.2:c.840C>T, XM_006711386.1:c.840C>T, XM_047422592.1:c.1032C>T, XM_011509640.4:c.840C>T, XM_011509640.3:c.840C>T, XM_011509640.2:c.840C>T, XM_011509640.1:c.840C>T, XM_047422591.1:c.1032C>T, XM_017001493.1:c.1032C>T

Select item 147831240310.

rs1478312403 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:155295257 (GRCh38)
1:155265048 (GRCh37)
Canonical SPDI:: NC_000001.11:155295256:C:A,NC_000001.11:155295256:C:T
Gene:: PKLR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.155295257C>A, NC_000001.11:g.155295257C>T, NC_000001.10:g.155265048C>A, NC_000001.10:g.155265048C>T, NG_011677.1:g.11178G>T, NG_011677.1:g.11178G>A, NM_000298.6:c.553G>T, NM_000298.6:c.553G>A, NM_000298.5:c.553G>T, NM_000298.5:c.553G>A, NM_181871.4:c.460G>T, NM_181871.4:c.460G>A, NM_181871.3:c.460G>T, NM_181871.3:c.460G>A, NW_003315906.1:g.100280C>A, NW_003315906.1:g.100280C>T, XM_006711386.5:c.361G>T, XM_006711386.5:c.361G>A, XM_006711386.4:c.361G>T, XM_006711386.4:c.361G>A, XM_006711386.3:c.361G>T, XM_006711386.3:c.361G>A, XM_006711386.2:c.361G>T, XM_006711386.2:c.361G>A, XM_006711386.1:c.361G>T, XM_006711386.1:c.361G>A, XM_047422592.1:c.553G>T, XM_047422592.1:c.553G>A, XM_011509640.4:c.361G>T, XM_011509640.4:c.361G>A, XM_011509640.3:c.361G>T, XM_011509640.3:c.361G>A, XM_011509640.2:c.361G>T, XM_011509640.2:c.361G>A, XM_011509640.1:c.361G>T, XM_011509640.1:c.361G>A, XM_047422591.1:c.553G>T, XM_047422591.1:c.553G>A, XM_017001493.1:c.553G>T, XM_017001493.1:c.553G>A, NP_000289.1:p.Val185Leu, NP_000289.1:p.Val185Met, NP_870986.1:p.Val154Leu, NP_870986.1:p.Val154Met, XP_006711449.1:p.Val121Leu, XP_006711449.1:p.Val121Met, XP_047278548.1:p.Val185Leu, XP_047278548.1:p.Val185Met, XP_011507942.1:p.Val121Leu, XP_011507942.1:p.Val121Met, XP_047278547.1:p.Val185Leu, XP_047278547.1:p.Val185Met, XP_016856982.1:p.Val185Leu, XP_016856982.1:p.Val185Met

Select item 147439089811.

rs1474390898 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:155295754 (GRCh38)
1:155265545 (GRCh37)
Canonical SPDI:: NC_000001.11:155295753:G:A
Gene:: PKLR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.155295754G>A, NC_000001.10:g.155265545G>A, NG_011677.1:g.10681C>T, NM_000298.6:c.286C>T, NM_000298.5:c.286C>T, NM_181871.4:c.193C>T, NM_181871.3:c.193C>T, NW_003315906.1:g.100777G>A, XM_006711386.5:c.94C>T, XM_006711386.4:c.94C>T, XM_006711386.3:c.94C>T, XM_006711386.2:c.94C>T, XM_006711386.1:c.94C>T, XM_047422592.1:c.286C>T, XM_011509640.4:c.94C>T, XM_011509640.3:c.94C>T, XM_011509640.2:c.94C>T, XM_011509640.1:c.94C>T, XM_047422591.1:c.286C>T, XM_017001493.1:c.286C>T, NP_000289.1:p.Pro96Ser, NP_870986.1:p.Pro65Ser, XP_006711449.1:p.Pro32Ser, XP_047278548.1:p.Pro96Ser, XP_011507942.1:p.Pro32Ser, XP_047278547.1:p.Pro96Ser, XP_016856982.1:p.Pro96Ser

Select item 147067789912.

rs1470677899 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:155295509 (GRCh38)
1:155265301 (GRCh37)
Canonical SPDI:: NC_000001.11:155295509:GGGG:GGGGG
Gene:: PKLR (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.155295513dup, NC_000001.10:g.155265304dup, NG_011677.1:g.10925dup, NM_000298.6:c.434dup, NM_000298.5:c.434dup, NM_181871.4:c.341dup, NM_181871.3:c.341dup, NW_003315906.1:g.100536dup, XM_006711386.5:c.242dup, XM_006711386.4:c.242dup, XM_006711386.3:c.242dup, XM_006711386.2:c.242dup, XM_006711386.1:c.242dup, XM_047422592.1:c.434dup, XM_011509640.4:c.242dup, XM_011509640.3:c.242dup, XM_011509640.2:c.242dup, XM_011509640.1:c.242dup, XM_047422591.1:c.434dup, XM_017001493.1:c.434dup, NP_000289.1:p.Leu146fs, NP_870986.1:p.Leu115fs, XP_006711449.1:p.Leu82fs, XP_047278548.1:p.Leu146fs, XP_011507942.1:p.Leu82fs, XP_047278547.1:p.Leu146fs, XP_016856982.1:p.Leu146fs

Select item 146959362113.

rs1469593621 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:155291789 (GRCh38)
1:155261580 (GRCh37)
Canonical SPDI:: NC_000001.11:155291788:C:T
Gene:: PKLR (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.155291789C>T, NC_000001.10:g.155261580C>T, NG_011677.1:g.14646G>A, NM_000298.6:c.1585G>A, NM_000298.5:c.1585G>A, NM_181871.4:c.1492G>A, NM_181871.3:c.1492G>A, NW_003315906.1:g.96812C>T, XM_006711386.5:c.1393G>A, XM_006711386.4:c.1393G>A, XM_006711386.3:c.1393G>A, XM_006711386.2:c.1393G>A, XM_006711386.1:c.1393G>A, XM_011509640.4:c.1393G>A, XM_011509640.3:c.1393G>A, XM_011509640.2:c.1393G>A, XM_011509640.1:c.1393G>A, XM_047422591.1:c.1585G>A, XM_047422592.1:c.1585G>A, NP_000289.1:p.Val529Ile, NP_870986.1:p.Val498Ile, XP_006711449.1:p.Val465Ile, XP_011507942.1:p.Val465Ile, XP_047278547.1:p.Val529Ile, XP_047278548.1:p.Val529Ile

Select item 146937354414.

rs1469373544 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 1:155295181 (GRCh38)
1:155264972 (GRCh37)
Canonical SPDI:: NC_000001.11:155295180:AC:
Gene:: PKLR (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.155295181_155295182del, NC_000001.10:g.155264972_155264973del, NG_011677.1:g.11253_11254del, NM_000298.6:c.628_629del, NM_000298.5:c.628_629del, NM_181871.4:c.535_536del, NM_181871.3:c.535_536del, NW_003315906.1:g.100204_100205del, XM_006711386.5:c.436_437del, XM_006711386.4:c.436_437del, XM_006711386.3:c.436_437del, XM_006711386.2:c.436_437del, XM_006711386.1:c.436_437del, XM_047422592.1:c.628_629del, XM_011509640.4:c.436_437del, XM_011509640.3:c.436_437del, XM_011509640.2:c.436_437del, XM_011509640.1:c.436_437del, XM_047422591.1:c.628_629del, XM_017001493.1:c.628_629del, NP_000289.1:p.Val210fs, NP_870986.1:p.Val179fs, XP_006711449.1:p.Val146fs, XP_047278548.1:p.Val210fs, XP_011507942.1:p.Val146fs, XP_047278547.1:p.Val210fs, XP_016856982.1:p.Val210fs

Select item 146892168715.

rs1468921687 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:155294676 (GRCh38)
1:155264467 (GRCh37)
Canonical SPDI:: NC_000001.11:155294675:G:T
Gene:: PKLR (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.155294676G>T, NC_000001.10:g.155264467G>T, NG_011677.1:g.11759C>A, NM_000298.6:c.771C>A, NM_000298.5:c.771C>A, NM_181871.4:c.678C>A, NM_181871.3:c.678C>A, NW_003315906.1:g.99699G>T, XM_006711386.5:c.579C>A, XM_006711386.4:c.579C>A, XM_006711386.3:c.579C>A, XM_006711386.2:c.579C>A, XM_006711386.1:c.579C>A, XM_047422592.1:c.771C>A, XM_011509640.4:c.579C>A, XM_011509640.3:c.579C>A, XM_011509640.2:c.579C>A, XM_011509640.1:c.579C>A, XM_047422591.1:c.771C>A, XM_017001493.1:c.771C>A

Select item 146879540516.

rs1468795405 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:155294546 (GRCh38)
1:155264337 (GRCh37)
Canonical SPDI:: NC_000001.11:155294545:G:C
Gene:: PKLR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00002/5 (GnomAD_exomes)
C=0.000053/14 (TOPMED)
C=0.000086/12 (GnomAD)
HGVS:: NC_000001.11:g.155294546G>C, NC_000001.10:g.155264337G>C, NG_011677.1:g.11889C>G, NM_000298.6:c.901C>G, NM_000298.5:c.901C>G, NM_181871.4:c.808C>G, NM_181871.3:c.808C>G, NW_003315906.1:g.99569G>C, XM_006711386.5:c.709C>G, XM_006711386.4:c.709C>G, XM_006711386.3:c.709C>G, XM_006711386.2:c.709C>G, XM_006711386.1:c.709C>G, XM_047422592.1:c.901C>G, XM_011509640.4:c.709C>G, XM_011509640.3:c.709C>G, XM_011509640.2:c.709C>G, XM_011509640.1:c.709C>G, XM_047422591.1:c.901C>G, XM_017001493.1:c.901C>G, NP_000289.1:p.Leu301Val, NP_870986.1:p.Leu270Val, XP_006711449.1:p.Leu237Val, XP_047278548.1:p.Leu301Val, XP_011507942.1:p.Leu237Val, XP_047278547.1:p.Leu301Val, XP_016856982.1:p.Leu301Val

Select item 146728696417.

rs1467286964 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:155291893 (GRCh38)
1:155261684 (GRCh37)
Canonical SPDI:: NC_000001.11:155291892:A:G
Gene:: PKLR (Varview)
Functional Consequence:: missense_variant,coding_sequence_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)
HGVS:: NC_000001.11:g.155291893A>G, NC_000001.10:g.155261684A>G, NG_011677.1:g.14542T>C, NM_000298.6:c.1481T>C, NM_000298.5:c.1481T>C, NM_181871.4:c.1388T>C, NM_181871.3:c.1388T>C, NW_003315906.1:g.96916A>G, XM_006711386.5:c.1289T>C, XM_006711386.4:c.1289T>C, XM_006711386.3:c.1289T>C, XM_006711386.2:c.1289T>C, XM_006711386.1:c.1289T>C, XM_011509640.4:c.1289T>C, XM_011509640.3:c.1289T>C, XM_011509640.2:c.1289T>C, XM_011509640.1:c.1289T>C, XM_047422591.1:c.1481T>C, XM_047422592.1:c.1481T>C, NP_000289.1:p.Ile494Thr, NP_870986.1:p.Ile463Thr, XP_006711449.1:p.Ile430Thr, XP_011507942.1:p.Ile430Thr, XP_047278547.1:p.Ile494Thr, XP_047278548.1:p.Ile494Thr

Select item 146349589318.

rs1463495893 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:155294662 (GRCh38)
1:155264453 (GRCh37)
Canonical SPDI:: NC_000001.11:155294661:G:A
Gene:: PKLR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.155294662G>A, NC_000001.10:g.155264453G>A, NG_011677.1:g.11773C>T, NM_000298.6:c.785C>T, NM_000298.5:c.785C>T, NM_181871.4:c.692C>T, NM_181871.3:c.692C>T, NW_003315906.1:g.99685G>A, XM_006711386.5:c.593C>T, XM_006711386.4:c.593C>T, XM_006711386.3:c.593C>T, XM_006711386.2:c.593C>T, XM_006711386.1:c.593C>T, XM_047422592.1:c.785C>T, XM_011509640.4:c.593C>T, XM_011509640.3:c.593C>T, XM_011509640.2:c.593C>T, XM_011509640.1:c.593C>T, XM_047422591.1:c.785C>T, XM_017001493.1:c.785C>T, NP_000289.1:p.Pro262Leu, NP_870986.1:p.Pro231Leu, XP_006711449.1:p.Pro198Leu, XP_047278548.1:p.Pro262Leu, XP_011507942.1:p.Pro198Leu, XP_047278547.1:p.Pro262Leu, XP_016856982.1:p.Pro262Leu

Select item 146325446519.

rs1463254465 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:155293215 (GRCh38)
1:155263006 (GRCh37)
Canonical SPDI:: NC_000001.11:155293214:G:A
Gene:: PKLR (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.155293215G>A, NC_000001.10:g.155263006G>A, NG_011677.1:g.13220C>T, NM_000298.6:c.1398C>T, NM_000298.5:c.1398C>T, NM_181871.4:c.1305C>T, NM_181871.3:c.1305C>T, NW_003315906.1:g.98238G>A, XM_006711386.5:c.1206C>T, XM_006711386.4:c.1206C>T, XM_006711386.3:c.1206C>T, XM_006711386.2:c.1206C>T, XM_006711386.1:c.1206C>T, XM_011509640.4:c.1206C>T, XM_011509640.3:c.1206C>T, XM_011509640.2:c.1206C>T, XM_011509640.1:c.1206C>T, XM_047422592.1:c.1398C>T, XM_047422591.1:c.1398C>T

Select item 146311240120.

rs1463112401 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:155295214 (GRCh38)
1:155265005 (GRCh37)
Canonical SPDI:: NC_000001.11:155295213:G:T
Gene:: PKLR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000001.11:g.155295214G>T, NC_000001.10:g.155265005G>T, NG_011677.1:g.11221C>A, NM_000298.6:c.596C>A, NM_000298.5:c.596C>A, NM_181871.4:c.503C>A, NM_181871.3:c.503C>A, NW_003315906.1:g.100237G>T, XM_006711386.5:c.404C>A, XM_006711386.4:c.404C>A, XM_006711386.3:c.404C>A, XM_006711386.2:c.404C>A, XM_006711386.1:c.404C>A, XM_047422592.1:c.596C>A, XM_011509640.4:c.404C>A, XM_011509640.3:c.404C>A, XM_011509640.2:c.404C>A, XM_011509640.1:c.404C>A, XM_047422591.1:c.596C>A, XM_017001493.1:c.596C>A, NP_000289.1:p.Thr199Asn, NP_870986.1:p.Thr168Asn, XP_006711449.1:p.Thr135Asn, XP_047278548.1:p.Thr199Asn, XP_011507942.1:p.Thr135Asn, XP_047278547.1:p.Thr199Asn, XP_016856982.1:p.Thr199Asn

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Result Filters

Clinical Significance

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Items: 1 to 20 of 627

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