Linked Data
ClinVar Variation Id:
332861
ClinVar RCV Id:
RCV000289901
RCV000295707
RCV000324930
RCV000339962
RCV000381963
RCV000554905
RCV000622371
RCV001528437
RCV001798787
dbSNP Id:
rs367774903
ExAC:
2:179485269 G / A
gnomAD v2:
2-179485269-G-A
gnomAD v3:
2-178620542-G-A
gnomAD v4:
2-178620542-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178620542G>A , CM000664.2:g.178620542G>A | GRCh38 |
| NC_000002.11:g.179485269G>A , CM000664.1:g.179485269G>A | GRCh37 |
| NC_000002.10:g.179193514G>A | NCBI36 |
| NG_011618.3:g.215261C>T , LRG_391:g.215261C>T | |
| NG_051363.1:g.102716G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.38275C>T | ENSP00000343764.6:p.Arg12759Cys | |
| ENST00000342175.11:c.19360C>T | ENSP00000340554.6:p.Arg6454Cys | |
| ENST00000359218.10:c.19159C>T | ENSP00000352154.5:p.Arg6387Cys | |
| ENST00000342175.10:c.19360C>T | ENSP00000340554.6:p.Arg6454Cys | |
| ENST00000342992.10:c.38275C>T | ENSP00000343764.6:p.Arg12759Cys | |
| ENST00000359218.9:c.19159C>T | ENSP00000352154.5:p.Arg6387Cys | |
| ENST00000460472.6:c.18784C>T | ENSP00000434586.1:p.Arg6262Cys | |
| ENST00000589042.5:c.45979C>T MANE Select | ENSP00000467141.1:p.Arg15327Cys | |
| ENST00000591111.5:c.41056C>T | ENSP00000465570.1:p.Arg13686Cys | |
| ENST00000615779.4:c.41056C>T | ENSP00000483597.1:p.Arg13686Cys | |
| NM_001256850.1:c.41056C>T | NP_001243779.1:p.Arg13686Cys | |
| NM_001267550.2:c.45979C>T MANE Select | NP_001254479.2:p.Arg15327Cys | |
| NM_003319.4:c.18784C>T | NP_003310.4:p.Arg6262Cys | |
| NM_133378.4:c.38275C>T | NP_596869.4:p.Arg12759Cys | |
| NM_133432.3:c.19159C>T | NP_597676.3:p.Arg6387Cys | |
| NM_133437.4:c.19360C>T | NP_597681.4:p.Arg6454Cys | |
| XM_011511729.1:c.45076C>T | XP_011510031.1:p.Arg15026Cys | |
| XM_011511730.1:c.18970C>T | XP_011510032.1:p.Arg6324Cys | |
| XM_011511731.1:c.18829C>T | XP_011510033.1:p.Arg6277Cys | |
| XM_017004819.1:c.44872C>T | XP_016860308.1:p.Arg14958Cys | |
| XM_017004820.1:c.40270C>T | XP_016860309.1:p.Arg13424Cys | |
| XM_017004821.1:c.40267C>T | XP_016860310.1:p.Arg13423Cys | |
| XM_017004822.1:c.37309C>T | XP_016860311.1:p.Arg12437Cys | |
| XM_017004823.1:c.18925C>T | XP_016860312.1:p.Arg6309Cys | |
| XM_024453094.1:c.40420C>T | XP_024308862.1:p.Arg13474Cys | |
| XM_024453095.1:c.40417C>T | XP_024308863.1:p.Arg13473Cys | |
| XM_024453096.1:c.39850C>T | XP_024308864.1:p.Arg13284Cys | |
| XM_024453097.1:c.37192C>T | XP_024308865.1:p.Arg12398Cys | |
| XM_024453098.1:c.37111C>T | XP_024308866.1:p.Arg12371Cys | |
| XM_024453099.1:c.18874C>T | XP_024308867.1:p.Arg6292Cys | |
| XM_024453100.1:c.8728C>T | XP_024308868.1:p.Arg2910Cys |