Linked Data
ClinVar Variation Id:
7308
ClinVar RCV Id:
RCV000007731
dbSNP Id:
rs121909084
gnomAD v2:
9-94499745-G-A
gnomAD v4:
9-91737463-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91737463G>A , CM000671.2:g.91737463G>A | GRCh38 |
| NC_000009.11:g.94499745G>A , CM000671.1:g.94499745G>A | GRCh37 |
| NC_000009.10:g.93539566G>A | NCBI36 |
| NG_008089.1:g.217700C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375708.4:c.550C>T MANE Select | ENSP00000364860.3:p.Arg184Cys | |
| ENST00000375708.3:c.550C>T | ENSP00000364860.3:p.Arg184Cys | |
| ENST00000375715.5:c.130C>T | ENSP00000364867.1:p.Arg44Cys | |
| ENST00000550066.5:n.1018C>T | ||
| NM_004560.3:c.550C>T | NP_004551.2:p.Arg184Cys | |
| XM_005252008.3:c.130C>T | XP_005252065.1:p.Arg44Cys | |
| XM_006717121.2:c.130C>T | XP_006717184.1:p.Arg44Cys | |
| XM_011518721.1:c.130C>T | XP_011517023.1:p.Arg44Cys | |
| NM_001318204.1:c.550C>T | NP_001305133.1:p.Arg184Cys | |
| XM_005252008.4:c.130C>T | XP_005252065.1:p.Arg44Cys | |
| XM_006717121.3:c.130C>T | XP_006717184.1:p.Arg44Cys | |
| XM_017014762.1:c.541C>T | XP_016870251.1:p.Arg181Cys | |
| XM_017014763.1:c.130C>T | XP_016870252.1:p.Arg44Cys | |
| XR_001746315.1:n.793C>T | ||
| NM_004560.4:c.550C>T MANE Select | NP_004551.2:p.Arg184Cys | |
| NM_001318204.2:c.550C>T | NP_001305133.1:p.Arg184Cys |