Linked Data
dbSNP Id:
rs994753416
gnomAD v2:
19-54393250-G-A
gnomAD v3:
19-53889996-G-A
gnomAD v4:
19-53889996-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.53889996G>A , CM000681.2:g.53889996G>A | GRCh38 |
| NC_000019.9:g.54393250G>A , CM000681.1:g.54393250G>A | GRCh37 |
| NC_000019.8:g.59085062G>A | NCBI36 |
| NG_009114.1:g.12784G>A , LRG_669:g.12784G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682028.1:c.508G>A | ENSP00000507230.1:p.Ala170Thr | |
| ENST00000682268.1:n.806G>A | ||
| ENST00000682902.1:n.810G>A | ||
| ENST00000683513.1:c.508G>A | ENSP00000506809.1:p.Ala170Thr | |
| ENST00000263431.4:c.508G>A MANE Select | ENSP00000263431.3:p.Ala170Thr | |
| ENST00000263431.3:c.508G>A | ENSP00000263431.3:p.Ala170Thr | |
| ENST00000474397.5:c.124G>A | ENSP00000471271.1:p.Ala42Thr | |
| NM_001316329.1:c.508G>A | NP_001303258.1:p.Ala170Thr | |
| NM_002739.3:c.508G>A , LRG_669t1:c.508G>A | NP_002730.1:p.Ala170Thr | |
| NM_002739.4:c.508G>A | NP_002730.1:p.Ala170Thr | |
| NM_002739.5:c.508G>A MANE Select | NP_002730.1:p.Ala170Thr | |
| NM_001316329.2:c.508G>A | NP_001303258.1:p.Ala170Thr |