Linked Data
dbSNP Id:
rs773752495
ExAC:
1:16378698 G / A
gnomAD v2:
1-16378698-G-A
gnomAD v4:
1-16052203-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16052203G>A , CM000663.2:g.16052203G>A | GRCh38 |
| NC_000001.10:g.16378698G>A , CM000663.1:g.16378698G>A | GRCh37 |
| NC_000001.9:g.16251285G>A | NCBI36 |
| NG_013079.1:g.13452G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682338.1:c.1414G>A | ENSP00000507062.1:p.Ala472Thr | |
| ENST00000682793.1:c.1414G>A | ENSP00000506910.1:p.Ala472Thr | |
| ENST00000682838.1:c.*1156G>A | ENSP00000507652.1:n.*1156G>A | |
| ENST00000683578.1:c.1414G>A | ENSP00000507430.1:p.Ala472Thr | |
| ENST00000683606.1:n.1024-4G>A | ||
| ENST00000683661.1:n.2949G>A | ||
| ENST00000684324.1:c.1414G>A | ENSP00000507937.1:p.Ala472Thr | |
| ENST00000684545.1:c.1414G>A | ENSP00000506733.1:p.Ala472Thr | |
| ENST00000684624.1:n.791G>A | ||
| ENST00000684714.1:c.1414G>A | ENSP00000506861.1:p.Ala472Thr | |
| ENST00000684731.1:n.875G>A | ||
| ENST00000375679.9:c.1414G>A MANE Select | ENSP00000364831.5:p.Ala472Thr | |
| ENST00000375667.7:c.907G>A | ENSP00000364819.3:p.Ala303Thr | |
| ENST00000375679.8:c.1414G>A | ENSP00000364831.4:p.Ala472Thr | |
| ENST00000619181.4:c.1033G>A | ENSP00000483866.1:p.Ala345Thr | |
| NM_000085.4:c.1414G>A | NP_000076.2:p.Ala472Thr | |
| NM_001165945.2:c.907G>A | NP_001159417.2:p.Ala303Thr | |
| XM_011540619.1:c.1255G>A | XP_011538921.1:p.Ala419Thr | |
| XM_011540620.1:c.1414G>A | XP_011538922.1:p.Ala472Thr | |
| XM_011540621.1:c.763G>A | XP_011538923.1:p.Ala255Thr | |
| NM_000085.5:c.1414G>A MANE Select | NP_000076.2:p.Ala472Thr |