Linked Data
dbSNP Id:
rs371174706
ExAC:
3:133475791 G / A
gnomAD v2:
3-133475791-G-A
gnomAD v3:
3-133756947-G-A
gnomAD v4:
3-133756947-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133756947G>A , CM000665.2:g.133756947G>A | GRCh38 |
| NC_000003.11:g.133475791G>A , CM000665.1:g.133475791G>A | GRCh37 |
| NC_000003.10:g.134958481G>A | NCBI36 |
| NG_013080.1:g.15815G>A | |
| NG_013080.2:g.99950G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402696.9:c.808G>A MANE Select | ENSP00000385834.3:p.Val270Ile | |
| ENST00000402696.7:c.808G>A | ENSP00000385834.3:p.Val270Ile | |
| ENST00000485977.1:c.173G>A | ENSP00000418716.1:p.Arg58His | |
| NM_001063.3:c.808G>A | NP_001054.1:p.Val270Ile | |
| XM_011513100.1:c.808G>A | XP_011511402.1:p.Val270Ile | |
| NM_001354703.1:c.676G>A | NP_001341632.1:p.Val226Ile | |
| NM_001354704.1:c.427G>A | NP_001341633.1:p.Val143Ile | |
| NM_001063.4:c.808G>A MANE Select | NP_001054.2:p.Val270Ile | |
| NM_001354703.2:c.676G>A | NP_001341632.2:p.Val226Ile | |
| NM_001354704.2:c.427G>A | NP_001341633.2:p.Val143Ile |