Linked Data
ClinVar Variation Id:
2737181
ClinVar RCV Id:
RCV003593346
dbSNP Id:
rs369347155
ExAC:
9:101304193 C / T
gnomAD v2:
9-101304193-C-T
gnomAD v3:
9-98541911-C-T
gnomAD v4:
9-98541911-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98541911C>T , CM000671.2:g.98541911C>T | GRCh38 |
| NC_000009.11:g.101304193C>T , CM000671.1:g.101304193C>T | GRCh37 |
| NC_000009.10:g.100344014C>T | NCBI36 |
| NG_016426.1:g.172287G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.592G>A MANE Select | ENSP00000259455.2:p.Val198Met | |
| ENST00000637410.1:n.370G>A | ||
| ENST00000637717.1:c.208G>A | ENSP00000490789.1:p.Val70Met | |
| ENST00000259455.3:c.592G>A | ENSP00000259455.2:p.Val198Met | |
| ENST00000477471.1:n.379G>A | ||
| ENST00000634227.1:n.366G>A | ||
| NM_005458.7:c.592G>A | NP_005449.5:p.Val198Met | |
| XM_017015331.2:c.298G>A | XP_016870820.1:p.Val100Met | |
| NM_005458.8:c.592G>A MANE Select | NP_005449.5:p.Val198Met |