Linked Data
ClinVar Variation Id:
719492
ClinVar RCV Id:
RCV000892644
dbSNP Id:
rs56393504
ExAC:
8:18258351 G / A
gnomAD v2:
8-18258351-G-A
gnomAD v3:
8-18400841-G-A
gnomAD v4:
8-18400841-G-A
COSMIC:
COSM2152260
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18400841G>A , CM000670.2:g.18400841G>A | GRCh38 |
| NC_000008.10:g.18258351G>A , CM000670.1:g.18258351G>A | GRCh37 |
| NC_000008.9:g.18302631G>A | NCBI36 |
| NG_012246.1:g.14597G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286479.4:c.838G>A MANE Select | ENSP00000286479.3:p.Val280Met | |
| ENST00000286479.3:c.838G>A | ENSP00000286479.3:p.Val280Met | |
| ENST00000520116.1:c.448G>A | ENSP00000428416.1:p.Val150Met | |
| NM_000015.2:c.838G>A | NP_000006.2:p.Val280Met | |
| XM_011544358.1:c.838G>A | XP_011542660.1:p.Val280Met | |
| XM_017012938.1:c.838G>A | XP_016868427.1:p.Val280Met | |
| NM_000015.3:c.838G>A MANE Select | NP_000006.2:p.Val280Met |