Linked Data
dbSNP Id:
rs752509680
ExAC:
19:54385877 C / A
gnomAD v2:
19-54385877-C-A
gnomAD v4:
19-53882623-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.53882623C>A , CM000681.2:g.53882623C>A | GRCh38 |
| NC_000019.9:g.54385877C>A , CM000681.1:g.54385877C>A | GRCh37 |
| NC_000019.8:g.59077689C>A | NCBI36 |
| NG_009114.1:g.5411C>A , LRG_669:g.5411C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682028.1:c.129C>A | ENSP00000507230.1:p.Phe43Leu | |
| ENST00000682268.1:n.427C>A | ||
| ENST00000682902.1:n.431C>A | ||
| ENST00000683513.1:c.129C>A | ENSP00000506809.1:p.Phe43Leu | |
| ENST00000263431.4:c.129C>A MANE Select | ENSP00000263431.3:p.Phe43Leu | |
| ENST00000263431.3:c.129C>A | ENSP00000263431.3:p.Phe43Leu | |
| ENST00000419486.1:c.-256C>A | ENSP00000387919.2:n.-256C>A | |
| ENST00000474397.5:c.-256C>A | ENSP00000471271.1:n.-256C>A | |
| ENST00000479081.5:c.-256C>A | ENSP00000471544.1:n.-256C>A | |
| NM_001316329.1:c.129C>A | NP_001303258.1:p.Phe43Leu | |
| NM_002739.3:c.129C>A , LRG_669t1:c.129C>A | NP_002730.1:p.Phe43Leu | |
| NM_002739.4:c.129C>A | NP_002730.1:p.Phe43Leu | |
| NM_002739.5:c.129C>A MANE Select | NP_002730.1:p.Phe43Leu | |
| NM_001316329.2:c.129C>A | NP_001303258.1:p.Phe43Leu |