Linked Data
ClinVar Variation Id:
21541
dbSNP Id:
rs113993996
gnomAD v2:
7-66456243-G-A
gnomAD v3:
7-66991256-G-A
gnomAD v4:
7-66991256-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66991256G>A , CM000669.2:g.66991256G>A | GRCh38 |
| NC_000007.13:g.66456243G>A , CM000669.1:g.66456243G>A | GRCh37 |
| NC_000007.12:g.66093678G>A | NCBI36 |
| NG_007277.1:g.9346C>T , LRG_104:g.9346C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000414306.6:c.*236C>T | ENSP00000394586.1:n.*236C>T | |
| ENST00000697860.1:n.472C>T | ||
| ENST00000697861.1:c.304C>T | ENSP00000513460.1:p.Arg102Cys | |
| ENST00000697862.1:c.460-34C>T | ENSP00000513461.1:n.460-34C>T | |
| ENST00000697863.1:c.448C>T | ENSP00000513462.1:p.Arg150Cys | |
| ENST00000697864.1:n.1649C>T | ||
| ENST00000697865.1:c.448C>T | ENSP00000513463.1:p.Arg150Cys | |
| ENST00000697866.1:c.187C>T | ENSP00000513464.1:p.Arg63Cys | |
| ENST00000697867.1:c.345C>T | ||
| ENST00000697868.1:c.*269C>T | ENSP00000513466.1:n.*269C>T | |
| ENST00000697897.1:c.505C>T | ENSP00000513469.1:p.Arg169Cys | |
| ENST00000246868.7:c.505C>T MANE Select | ENSP00000246868.2:p.Arg169Cys | |
| ENST00000246868.6:c.505C>T | ENSP00000246868.2:p.Arg169Cys | |
| ENST00000414306.5:c.*236C>T | ENSP00000394586.1:n.*236C>T | |
| ENST00000463579.1:n.394C>T | ||
| ENST00000490953.5:n.646C>T | ||
| ENST00000617799.1:c.505C>T | ENSP00000483040.1:p.Arg169Cys | |
| NM_016038.2:c.505C>T , LRG_104t1:c.505C>T | NP_057122.2:p.Arg169Cys | |
| NM_016038.3:c.505C>T | NP_057122.2:p.Arg169Cys | |
| NM_016038.4:c.505C>T MANE Select | NP_057122.2:p.Arg169Cys |