Linked Data
dbSNP Id:
rs747237811
ExAC:
9:38396655 G / A
gnomAD v2:
9-38396655-G-A
gnomAD v3:
9-38396658-G-A
gnomAD v4:
9-38396658-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.38396658G>A , CM000671.2:g.38396658G>A | GRCh38 |
| NC_000009.11:g.38396655G>A , CM000671.1:g.38396655G>A | GRCh37 |
| NC_000009.10:g.38386655G>A | NCBI36 |
| NG_012253.1:g.8954G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377698.4:c.910G>A MANE Select | ENSP00000366927.3:p.Val304Met | |
| ENST00000377698.3:c.910G>A | ENSP00000366927.3:p.Val304Met | |
| NM_000692.4:c.910G>A | NP_000683.3:p.Val304Met | |
| XM_011517802.1:c.910G>A | XP_011516104.1:p.Val304Met | |
| XM_011517802.2:c.910G>A | XP_011516104.1:p.Val304Met | |
| NM_000692.5:c.910G>A MANE Select | NP_000683.3:p.Val304Met |