Linked Data
ClinVar Variation Id:
643413
ClinVar RCV Id:
RCV000797106
dbSNP Id:
rs199853576
ExAC:
12:109998846 G / A
gnomAD v2:
12-109998846-G-A
gnomAD v3:
12-109561041-G-A
gnomAD v4:
12-109561041-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109561041G>A , CM000674.2:g.109561041G>A | GRCh38 |
| NC_000012.11:g.109998846G>A , CM000674.1:g.109998846G>A | GRCh37 |
| NC_000012.10:g.108483229G>A | NCBI36 |
| NG_007096.1:g.17457C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545712.7:c.583C>T MANE Select | ENSP00000445920.1:p.Arg195Cys | |
| ENST00000537496.5:c.*148C>T | ENSP00000444793.1:n.*148C>T | |
| ENST00000540016.5:c.427C>T | ENSP00000474582.1:p.Arg143Cys | |
| ENST00000541763.6:c.808C>T | ENSP00000474981.1:n.808C>T | |
| ENST00000544051.5:c.*464C>T | ENSP00000438079.1:n.*464C>T | |
| ENST00000545712.6:c.583C>T | ENSP00000445920.1:p.Arg195Cys | |
| NM_052845.3:c.583C>T | NP_443077.1:p.Arg195Cys | |
| NR_038118.1:n.743C>T | ||
| XM_011538266.1:c.428C>T | XP_011536568.1:p.Thr143Met | |
| XM_011538267.1:c.428C>T | XP_011536569.1:p.Thr143Met | |
| XM_011538268.1:c.310C>T | XP_011536570.1:p.Arg104Cys | |
| XM_011538269.1:c.307C>T | XP_011536571.1:p.Arg103Cys | |
| XM_011538267.3:c.428C>T | XP_011536569.1:p.Thr143Met | |
| XM_011538268.2:c.310C>T | XP_011536570.1:p.Arg104Cys | |
| XM_011538269.2:c.307C>T | XP_011536571.1:p.Arg103Cys | |
| XM_024448961.1:c.583C>T | XP_024304729.1:p.Arg195Cys | |
| NM_052845.4:c.583C>T MANE Select | NP_443077.1:p.Arg195Cys | |
| NR_038118.2:n.694C>T |