Linked Data
dbSNP Id:
rs753178188
ExAC:
14:24728341 G / A
gnomAD v2:
14-24728341-G-A
gnomAD v3:
14-24259135-G-A
gnomAD v4:
14-24259135-G-A
COSMIC:
COSM954993
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24259135G>A , CM000676.2:g.24259135G>A | GRCh38 |
| NC_000014.8:g.24728341G>A , CM000676.1:g.24728341G>A | GRCh37 |
| NC_000014.7:g.23798181G>A | NCBI36 |
| NG_007150.1:g.9032C>T | |
| NG_007150.2:g.9032C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206765.11:c.1099C>T MANE Select | ENSP00000206765.6:p.Arg367Cys | |
| ENST00000206765.10:c.1099C>T | ENSP00000206765.6:p.Arg367Cys | |
| ENST00000544573.5:c.-28-747C>T | ENSP00000439446.1:n.-28-747C>T | |
| ENST00000559136.1:c.172C>T | ENSP00000453337.1:p.Arg58Cys | |
| NM_000359.2:c.1099C>T | NP_000350.1:p.Arg367Cys | |
| NM_000359.3:c.1099C>T MANE Select | NP_000350.1:p.Arg367Cys |