Linked Data
ClinVar Variation Id:
333355
dbSNP Id:
rs80292673
gnomAD v2:
2-20112313-C-T
gnomAD v3:
2-19912552-C-T
gnomAD v4:
2-19912552-C-T
COSMIC:
COSN6932357
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.19912552C>T , CM000664.2:g.19912552C>T | GRCh38 |
| NC_000002.11:g.20112313C>T , CM000664.1:g.20112313C>T | GRCh37 |
| NC_000002.10:g.19975794C>T | NCBI36 |
| NG_021212.1:g.82572G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281405.9:c.*1006G>A MANE Select | ENSP00000281405.5:n.*1006G>A | |
| ENST00000345530.8:c.*1006G>A MANE Plus Clinical | ENSP00000314444.5:n.*1006G>A | |
| ENST00000281405.8:c.*1006G>A | ENSP00000281405.4:n.*1006G>A | |
| ENST00000345530.7:c.*1006G>A | ENSP00000314444.5:n.*1006G>A | |
| NM_001006657.1:c.*1006G>A | NP_001006658.1:n.*1006G>A | |
| NM_020779.3:c.*1006G>A | NP_065830.2:n.*1006G>A | |
| XM_011533007.1:c.*1006G>A | XP_011531309.1:n.*1006G>A | |
| XM_011533007.2:c.*1006G>A | XP_011531309.1:n.*1006G>A | |
| XR_426989.3:n.4452G>A | ||
| NM_001006657.2:c.*1006G>A MANE Plus Clinical | NP_001006658.1:n.*1006G>A | |
| NM_020779.4:c.*1006G>A MANE Select | NP_065830.2:n.*1006G>A |