Linked Data
ClinVar Variation Id:
5424
dbSNP Id:
rs119489102
gnomAD v4:
11-65868522-G-A
COSMIC:
COSM4442692
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65868522G>A , CM000673.2:g.65868522G>A | GRCh38 |
| NC_000011.9:g.65635993G>A , CM000673.1:g.65635993G>A | GRCh37 |
| NC_000011.8:g.65392569G>A | NCBI36 |
| NG_012304.2:g.9413C>T | |
| NG_053116.1:g.13461G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307998.11:c.835C>T MANE Select | ENSP00000309953.6:p.Arg279Cys | |
| ENST00000307998.10:c.835C>T | ENSP00000309953.6:p.Arg279Cys | |
| ENST00000526628.5:n.1401C>T | ||
| ENST00000527969.1:n.1520C>T | ||
| ENST00000528176.5:c.835C>T | ENSP00000434151.1:p.Arg279Cys | |
| ENST00000530806.5:c.-164C>T | ENSP00000436526.1:n.-164C>T | |
| ENST00000531005.5:n.1829C>T | ||
| ENST00000531972.5:c.835C>T | ENSP00000435295.1:p.Arg279Cys | |
| ENST00000532084.5:n.261C>T | ||
| NM_016938.4:c.835C>T | NP_058634.4:p.Arg279Cys | |
| NR_037718.1:n.1094C>T | ||
| NM_016938.5:c.835C>T MANE Select | NP_058634.4:p.Arg279Cys | |
| NR_037718.2:n.960C>T |