Linked Data
dbSNP Id:
rs764312863
ExAC:
17:62038714 C / T
gnomAD v2:
17-62038714-C-T
gnomAD v4:
17-63961354-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63961354C>T , CM000679.2:g.63961354C>T | GRCh38 |
| NC_000017.10:g.62038714C>T , CM000679.1:g.62038714C>T | GRCh37 |
| NC_000017.9:g.59392446C>T | NCBI36 |
| NG_011699.1:g.16565G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.1684G>A MANE Select | ENSP00000396320.1:p.Ala562Thr | |
| ENST00000578147.5:c.1684G>A | ENSP00000463963.1:p.Ala562Thr | |
| ENST00000581514.1:n.340G>A | ||
| NM_000334.4:c.1684G>A MANE Select | NP_000325.4:p.Ala562Thr | |
| XM_005257566.3:c.1684G>A | XP_005257623.1:p.Ala562Thr | |
| XR_934910.1:n.124+632C>T | ||
| XR_001752969.1:n.1276+632C>T | ||
| XR_934910.2:n.1276+632C>T |