Linked Data
ClinVar Variation Id:
2295729
ClinVar RCV Id:
RCV002849901
dbSNP Id:
rs777379687
ExAC:
13:113803733 G / A
gnomAD v2:
13-113803733-G-A
gnomAD v3:
13-113149419-G-A
gnomAD v4:
13-113149419-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113149419G>A , CM000675.2:g.113149419G>A | GRCh38 |
| NC_000013.10:g.113803733G>A , CM000675.1:g.113803733G>A | GRCh37 |
| NC_000013.9:g.112851734G>A | NCBI36 |
| NG_009258.1:g.31621G>A , LRG_548:g.31621G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375559.8:c.1369G>A MANE Select | ENSP00000364709.3:p.Ala457Thr | |
| ENST00000375551.7:c.*360G>A | ENSP00000364701.3:n.*360G>A | |
| ENST00000375559.7:c.1369G>A | ENSP00000364709.3:p.Ala457Thr | |
| ENST00000409306.5:c.*360G>A | ENSP00000387092.1:n.*360G>A | |
| NM_000504.3:c.1369G>A , LRG_548t1:c.1369G>A | NP_000495.1:p.Ala457Thr | |
| NM_001312674.1:c.1237G>A | NP_001299603.1:p.Ala413Thr | |
| NM_001312675.1:c.*360G>A | NP_001299604.1:n.*360G>A | |
| NM_000504.4:c.1369G>A MANE Select | NP_000495.1:p.Ala457Thr | |
| NM_001312674.2:c.1237G>A | NP_001299603.1:p.Ala413Thr | |
| NM_001312675.2:c.*360G>A | NP_001299604.1:n.*360G>A |