Linked Data
ClinVar Variation Id:
12800
ClinVar RCV Id:
RCV000013644
dbSNP Id:
rs104894124
gnomAD v4:
9-124503353-C-T
COSMIC:
COSM4443612
PubMed:
PMID:17200175
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.124503353C>T , CM000671.2:g.124503353C>T | GRCh38 |
| NC_000009.11:g.127265632C>T , CM000671.1:g.127265632C>T | GRCh37 |
| NC_000009.10:g.126305453C>T | NCBI36 |
| NG_008176.1:g.9068G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373588.9:c.43G>A MANE Select | ENSP00000362690.4:p.Val15Met | |
| ENST00000373588.8:c.43G>A | ENSP00000362690.4:p.Val15Met | |
| ENST00000455734.1:c.43G>A | ENSP00000393245.1:p.Val15Met | |
| ENST00000620110.4:c.43G>A | ENSP00000483309.1:p.Val15Met | |
| NM_004959.4:c.43G>A | NP_004950.2:p.Val15Met | |
| XM_005251871.2:c.43G>A | XP_005251928.1:p.Val15Met | |
| XM_005251872.3:c.-77G>A | XP_005251929.1:n.-77G>A | |
| XM_011518455.1:c.43G>A | XP_011516757.1:p.Val15Met | |
| XM_011518456.1:c.43G>A | XP_011516758.1:p.Val15Met | |
| NM_004959.5:c.43G>A MANE Select | NP_004950.2:p.Val15Met |