Linked Data
dbSNP Id:
rs151248272
ExAC:
3:119526222 G / A
gnomAD v2:
3-119526222-G-A
gnomAD v3:
3-119807375-G-A
gnomAD v4:
3-119807375-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119807375G>A , CM000665.2:g.119807375G>A | GRCh38 |
| NC_000003.11:g.119526222G>A , CM000665.1:g.119526222G>A | GRCh37 |
| NC_000003.10:g.121008912G>A | NCBI36 |
| NG_011856.1:g.31892G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393716.8:c.125G>A MANE Select | ENSP00000377319.3:p.Arg42His | |
| ENST00000466380.6:c.125G>A | ENSP00000420297.2:p.Arg42His | |
| ENST00000648112.1:c.*148G>A | ENSP00000497876.1:n.*148G>A | |
| ENST00000337940.4:c.242G>A | ENSP00000336528.4:p.Arg81His | |
| ENST00000393716.6:c.125G>A | ENSP00000377319.2:p.Arg42His | |
| ENST00000466380.5:c.125G>A | ENSP00000420297.1:p.Arg42His | |
| ENST00000474090.1:n.413G>A | ||
| NM_003889.3:c.125G>A | NP_003880.3:p.Arg42His | |
| NM_022002.2:c.242G>A | NP_071285.1:p.Arg81His | |
| NM_033013.2:c.125G>A | NP_148934.1:p.Arg42His | |
| NM_003889.4:c.125G>A MANE Select | NP_003880.3:p.Arg42His | |
| NM_022002.3:c.242G>A | NP_071285.1:p.Arg81His | |
| NM_033013.3:c.125G>A | NP_148934.1:p.Arg42His |