Linked Data
ClinVar Variation Id:
9229
ClinVar RCV Id:
RCV000009810
dbSNP Id:
rs312262798
COSMIC:
COSM5907151
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119917763C>T , CM000663.2:g.119917763C>T | GRCh38 |
| NC_000001.10:g.120460386C>T , CM000663.1:g.120460386C>T | GRCh37 |
| NC_000001.9:g.120261909C>T | NCBI36 |
| NG_008163.1:g.156891G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256646.7:c.5930-1G>A MANE Select | ENSP00000256646.2:n.5930-1G>A | |
| ENST00000256646.6:c.5930-1G>A | ENSP00000256646.2:n.5930-1G>A | |
| NM_024408.3:c.5930-1G>A | NP_077719.2:n.5930-1G>A | |
| XM_005270901.2:c.5813-1G>A | XP_005270958.1:n.5813-1G>A | |
| XM_011541519.1:c.5918-1G>A | XP_011539821.1:n.5918-1G>A | |
| XM_011541520.1:c.5813-1G>A | XP_011539822.1:n.5813-1G>A | |
| NM_024408.4:c.5930-1G>A MANE Select | NP_077719.2:n.5930-1G>A |