Linked Data
ClinVar Variation Id:
12614
ClinVar RCV Id:
RCV000013448
dbSNP Id:
rs121918676
gnomAD v2:
3-133475813-G-A
gnomAD v3:
3-133756969-G-A
gnomAD v4:
3-133756969-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133756969G>A , CM000665.2:g.133756969G>A | GRCh38 |
| NC_000003.11:g.133475813G>A , CM000665.1:g.133475813G>A | GRCh37 |
| NC_000003.10:g.134958503G>A | NCBI36 |
| NG_013080.1:g.15837G>A | |
| NG_013080.2:g.99972G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000402696.9:c.830G>A MANE Select | ENSP00000385834.3:p.Gly277Asp | |
| ENST00000402696.7:c.830G>A | ENSP00000385834.3:p.Gly277Asp | |
| ENST00000485977.1:c.195G>A | ENSP00000418716.1:p.Arg65= | |
| NM_001063.3:c.830G>A | NP_001054.1:p.Gly277Asp | |
| XM_011513100.1:c.830G>A | XP_011511402.1:p.Gly277Asp | |
| NM_001354703.1:c.698G>A | NP_001341632.1:p.Gly233Asp | |
| NM_001354704.1:c.449G>A | NP_001341633.1:p.Gly150Asp | |
| NM_001063.4:c.830G>A MANE Select | NP_001054.2:p.Gly277Asp | |
| NM_001354703.2:c.698G>A | NP_001341632.2:p.Gly233Asp | |
| NM_001354704.2:c.449G>A | NP_001341633.2:p.Gly150Asp |