Linked Data
dbSNP Id:
rs779470034
ExAC:
17:62019284 G / T
gnomAD v2:
17-62019284-G-T
gnomAD v4:
17-63941924-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63941924G>T , CM000679.2:g.63941924G>T | GRCh38 |
| NC_000017.10:g.62019284G>T , CM000679.1:g.62019284G>T | GRCh37 |
| NC_000017.9:g.59373016G>T | NCBI36 |
| NG_011699.1:g.35995C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.4358C>A MANE Select | ENSP00000396320.1:p.Ala1453Glu | |
| ENST00000578147.5:c.4358C>A | ENSP00000463963.1:p.Ala1453Glu | |
| NM_000334.4:c.4358C>A MANE Select | NP_000325.4:p.Ala1453Glu | |
| XM_005257566.3:c.4358C>A | XP_005257623.1:p.Ala1453Glu |