Linked Data
dbSNP Id:
rs769557448
ExAC:
1:245027360 C / T
gnomAD v2:
1-245027360-C-T
gnomAD v4:
1-244864058-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.244864058C>T , CM000663.2:g.244864058C>T | GRCh38 |
| NC_000001.10:g.245027360C>T , CM000663.1:g.245027360C>T | GRCh37 |
| NC_000001.9:g.243093983C>T | NCBI36 |
| NG_042184.1:g.5468G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283179.14:c.250G>A | ENSP00000283179.10:p.Glu84Lys | |
| ENST00000444376.7:c.250G>A | ENSP00000393151.2:p.Glu84Lys | |
| ENST00000476241.2:n.435G>A | ||
| ENST00000638475.1:c.34G>A | ENSP00000491305.1:p.Glu12Lys | |
| ENST00000638952.1:n.481G>A | ||
| ENST00000640218.2:c.250G>A MANE Select | ENSP00000491215.1:p.Glu84Lys | |
| ENST00000640306.1:c.250G>A | ENSP00000491685.1:p.Glu84Lys | |
| ENST00000649899.1:n.474G>A | ||
| ENST00000283179.13:c.250G>A | ENSP00000283179.9:p.Glu84Lys | |
| ENST00000444376.6:c.250G>A | ENSP00000393151.2:p.Glu84Lys | |
| ENST00000476241.1:n.434G>A | ||
| NM_004501.3:c.250G>A | NP_004492.2:p.Glu84Lys | |
| NM_031844.2:c.250G>A | NP_114032.2:p.Glu84Lys | |
| NM_031844.3:c.250G>A MANE Select | NP_114032.2:p.Glu84Lys |