Linked Data
dbSNP Id:
rs767469232
ExAC:
1:62913016 A / T
gnomAD v2:
1-62913016-A-T
gnomAD v3:
1-62447345-A-T
gnomAD v4:
1-62447345-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.62447345A>T , CM000663.2:g.62447345A>T | GRCh38 |
| NC_000001.10:g.62913016A>T , CM000663.1:g.62913016A>T | GRCh37 |
| NC_000001.9:g.62685604A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339950.5:c.1254A>T MANE Select | ENSP00000343526.4:p.Glu418Asp | |
| ENST00000339950.4:c.1254A>T | ENSP00000343526.4:p.Glu418Asp | |
| ENST00000371146.5:c.1254A>T | ENSP00000360188.1:p.Glu418Asp | |
| NM_001017415.1:c.1254A>T | NP_001017415.1:p.Glu418Asp | |
| NM_001017416.1:c.1254A>T | NP_001017416.1:p.Glu418Asp | |
| NM_003368.4:c.1254A>T | NP_003359.3:p.Glu418Asp | |
| NM_003368.5:c.1254A>T MANE Select | NP_003359.3:p.Glu418Asp | |
| NM_001017415.2:c.1254A>T | NP_001017415.1:p.Glu418Asp | |
| NM_001017416.2:c.1254A>T | NP_001017416.1:p.Glu418Asp |