Linked Data
dbSNP Id:
rs760774339
ExAC:
9:38396674 C / A
gnomAD v2:
9-38396674-C-A
gnomAD v4:
9-38396677-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.38396677C>A , CM000671.2:g.38396677C>A | GRCh38 |
| NC_000009.11:g.38396674C>A , CM000671.1:g.38396674C>A | GRCh37 |
| NC_000009.10:g.38386674C>A | NCBI36 |
| NG_012253.1:g.8973C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377698.4:c.929C>A MANE Select | ENSP00000366927.3:p.Ala310Asp | |
| ENST00000377698.3:c.929C>A | ENSP00000366927.3:p.Ala310Asp | |
| NM_000692.4:c.929C>A | NP_000683.3:p.Ala310Asp | |
| XM_011517802.1:c.929C>A | XP_011516104.1:p.Ala310Asp | |
| XM_011517802.2:c.929C>A | XP_011516104.1:p.Ala310Asp | |
| NM_000692.5:c.929C>A MANE Select | NP_000683.3:p.Ala310Asp |