Linked Data
dbSNP Id:
rs1805067
ExAC:
16:55732423 G / A
gnomAD v2:
16-55732423-G-A
gnomAD v3:
16-55698511-G-A
gnomAD v4:
16-55698511-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.55698511G>A , CM000678.2:g.55698511G>A | GRCh38 |
| NC_000016.9:g.55732423G>A , CM000678.1:g.55732423G>A | GRCh37 |
| NC_000016.8:g.54289924G>A | NCBI36 |
| NG_016969.1:g.47882G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000219833.13:c.1432G>A | ENSP00000219833.8:p.Gly478Ser | |
| ENST00000568943.6:c.1432G>A MANE Select | ENSP00000457473.1:p.Gly478Ser | |
| ENST00000574918.2:c.1297G>A | ENSP00000460214.2:p.Gly433Ser | |
| ENST00000682050.1:c.*131G>A | ENSP00000508367.1:n.*131G>A | |
| ENST00000219833.12:c.1432G>A | ENSP00000219833.8:p.Gly478Ser | |
| ENST00000379906.6:c.1432G>A | ENSP00000369237.2:p.Gly478Ser | |
| ENST00000414754.7:c.1432G>A | ENSP00000394956.3:p.Gly478Ser | |
| ENST00000561820.5:c.1432G>A | ENSP00000454439.1:p.Gly478Ser | |
| ENST00000566163.5:c.1297G>A | ENSP00000456210.1:p.Gly433Ser | |
| ENST00000567238.1:c.1117G>A | ENSP00000457375.1:p.Gly373Ser | |
| ENST00000568943.5:c.1432G>A | ENSP00000457473.1:p.Gly478Ser | |
| NM_001043.3:c.1432G>A | NP_001034.1:p.Gly478Ser | |
| NM_001172501.1:c.1432G>A | NP_001165972.1:p.Gly478Ser | |
| NM_001172502.1:c.1117G>A | NP_001165973.1:p.Gly373Ser | |
| NM_001172504.1:c.1432G>A | NP_001165975.1:p.Gly478Ser | |
| XM_006721263.2:c.1432G>A | XP_006721326.1:p.Gly478Ser | |
| XM_011523295.1:c.1432G>A | XP_011521597.1:p.Gly478Ser | |
| XM_011523296.1:c.1297G>A | XP_011521598.1:p.Gly433Ser | |
| XM_011523297.1:c.1297G>A | XP_011521599.1:p.Gly433Ser | |
| XM_011523299.1:c.709G>A | XP_011521601.1:p.Gly237Ser | |
| XM_011523300.1:c.709G>A | XP_011521602.1:p.Gly237Ser | |
| XR_933403.1:n.2049G>A | ||
| XM_011523295.2:c.1432G>A | XP_011521597.1:p.Gly478Ser | |
| XM_011523296.2:c.1297G>A | XP_011521598.1:p.Gly433Ser | |
| XM_011523297.3:c.1297G>A | XP_011521599.1:p.Gly433Ser | |
| XM_011523299.2:c.709G>A | XP_011521601.1:p.Gly237Ser | |
| XM_011523300.2:c.709G>A | XP_011521602.1:p.Gly237Ser | |
| XR_933403.3:n.1725G>A | ||
| NM_001172501.2:c.1432G>A | NP_001165972.1:p.Gly478Ser | |
| NM_001172501.3:c.1432G>A MANE Select | NP_001165972.1:p.Gly478Ser |