Linked Data
ClinVar Variation Id:
1324206
ClinVar RCV Id:
RCV001868859
dbSNP Id:
rs118204010
ExAC:
12:58157931 G / A
gnomAD v2:
12-58157931-G-A
gnomAD v3:
12-57764148-G-A
gnomAD v4:
12-57764148-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764148G>A , CM000674.2:g.57764148G>A | GRCh38 |
| NC_000012.11:g.58157931G>A , CM000674.1:g.58157931G>A | GRCh37 |
| NC_000012.10:g.56444198G>A | NCBI36 |
| NG_007076.1:g.8046C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000713544.1:c.1246C>T | ENSP00000518840.1:p.Arg416Cys | |
| ENST00000713545.1:c.*170C>T | ENSP00000518841.1:n.*170C>T | |
| ENST00000228606.9:c.1165C>T MANE Select | ENSP00000228606.4:p.Arg389Cys | |
| ENST00000228606.8:c.1165C>T | ENSP00000228606.4:p.Arg389Cys | |
| ENST00000546567.5:c.460C>T | ENSP00000449472.1:p.Arg154Cys | |
| ENST00000547344.5:n.1304C>T | ||
| NM_000785.3:c.1165C>T | NP_000776.1:p.Arg389Cys | |
| NM_000785.4:c.1165C>T MANE Select | NP_000776.1:p.Arg389Cys |