Linked Data
dbSNP Id:
rs759971821
ExAC:
16:16244083 G / T
gnomAD v2:
16-16244083-G-T
gnomAD v4:
16-16150226-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16150226G>T , CM000678.2:g.16150226G>T | GRCh38 |
| NC_000016.9:g.16244083G>T , CM000678.1:g.16244083G>T | GRCh37 |
| NC_000016.8:g.16151584G>T | NCBI36 |
| NG_007558.2:g.78246C>A | |
| NG_007558.3:g.78392C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.*591C>A | ENSP00000483331.2:n.*591C>A | |
| ENST00000205557.12:c.4419C>A MANE Select | ENSP00000205557.7:p.Asp1473Glu | |
| ENST00000640696.1:c.1233C>A | ENSP00000492197.1:p.Asp411Glu | |
| ENST00000205557.11:c.4419C>A | ENSP00000205557.7:p.Asp1473Glu | |
| ENST00000456970.6:c.4044C>A | ENSP00000405002.2:n.4044C>A | |
| ENST00000576204.5:n.1282C>A | ||
| ENST00000622290.4:c.*1628C>A | ENSP00000483331.1:n.*1628C>A | |
| NM_001171.5:c.4419C>A | NP_001162.4:p.Asp1473Glu | |
| XM_011522479.1:c.4386C>A | XP_011520781.1:p.Asp1462Glu | |
| XM_011522480.1:c.4077C>A | XP_011520782.1:p.Asp1359Glu | |
| XM_011522481.1:c.4077C>A | XP_011520783.1:p.Asp1359Glu | |
| XR_933134.1:n.538+5936G>T | ||
| NM_001351800.1:c.4077C>A | NP_001338729.1:p.Asp1359Glu | |
| NR_147784.1:n.4081C>A | ||
| XM_011522479.2:c.4386C>A | XP_011520781.1:p.Asp1462Glu | |
| XM_011522481.3:c.4077C>A | XP_011520783.1:p.Asp1359Glu | |
| XM_017023212.1:c.4251C>A | XP_016878701.1:p.Asp1417Glu | |
| XM_024450261.1:c.4455C>A | XP_024306029.1:p.Asp1485Glu | |
| NM_001171.6:c.4419C>A MANE Select | NP_001162.5:p.Asp1473Glu |