Linked Data
dbSNP Id:
rs747256472
ExAC:
1:201286781 G / A
gnomAD v2:
1-201286781-G-A
gnomAD v3:
1-201317653-G-A
gnomAD v4:
1-201317653-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201317653G>A , CM000663.2:g.201317653G>A | GRCh38 |
| NC_000001.10:g.201286781G>A , CM000663.1:g.201286781G>A | GRCh37 |
| NC_000001.9:g.199553404G>A | NCBI36 |
| NG_023337.1:g.39202G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367324.8:c.928G>A MANE Select | ENSP00000356293.4:p.Ala310Thr | |
| ENST00000263946.7:c.928G>A | ENSP00000263946.3:p.Ala310Thr | |
| ENST00000352845.3:c.928G>A | ENSP00000295597.3:p.Ala310Thr | |
| ENST00000367324.7:c.928G>A | ENSP00000356293.3:p.Ala310Thr | |
| ENST00000475988.1:n.270G>A | ||
| ENST00000622031.4:c.925G>A | ENSP00000482213.1:p.Ala309Thr | |
| NM_000299.3:c.928G>A | NP_000290.2:p.Ala310Thr | |
| NM_001005337.2:c.928G>A | NP_001005337.1:p.Ala310Thr | |
| NM_001005337.3:c.928G>A MANE Select | NP_001005337.1:p.Ala310Thr | |
| NM_000299.4:c.928G>A | NP_000290.2:p.Ala310Thr |