Linked Data
ClinVar Variation Id:
207396
ClinVar RCV Id:
RCV000189576
dbSNP Id:
rs796053345
gnomAD v4:
X-100669329-C-T
COSMIC:
COSM5539726
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.100669329C>T , CM000685.2:g.100669329C>T | GRCh38 |
| NC_000023.10:g.99924326C>T , CM000685.1:g.99924326C>T | GRCh37 |
| NC_000023.9:g.99810982C>T | NCBI36 |
| NG_021337.1:g.30164C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373004.5:c.1177C>T MANE Select | ENSP00000362095.3:p.Arg393Trp | |
| ENST00000638920.1:n.1180C>T | ||
| ENST00000640282.1:c.142-1478C>T | ENSP00000491188.1:n.142-1478C>T | |
| ENST00000373004.3:c.1177C>T | ENSP00000362095.3:p.Arg393Trp | |
| NM_014467.2:c.1177C>T | NP_055282.1:p.Arg393Trp | |
| XM_005262121.2:c.1177C>T | XP_005262178.1:p.Arg393Trp | |
| NM_014467.3:c.1177C>T MANE Select | NP_055282.1:p.Arg393Trp |