Linked Data
dbSNP Id:
rs142175931
ExAC:
17:27861260 G / A
gnomAD v2:
17-27861260-G-A
gnomAD v4:
17-29534242-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.29534242G>A , CM000679.2:g.29534242G>A | GRCh38 |
| NC_000017.10:g.27861260G>A , CM000679.1:g.27861260G>A | GRCh37 |
| NC_000017.9:g.24885386G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261716.8:c.2486G>A MANE Select | ENSP00000261716.3:p.Arg829Gln | |
| ENST00000261716.7:c.2486G>A | ENSP00000261716.3:p.Arg829Gln | |
| ENST00000536202.1:c.2042G>A | ENSP00000438819.1:p.Arg681Gln | |
| NM_020791.2:c.2486G>A | NP_065842.1:p.Arg829Gln | |
| NM_025142.1:c.2042G>A | NP_079418.1:p.Arg681Gln | |
| XM_011525060.1:c.2486G>A | XP_011523362.1:p.Arg829Gln | |
| XM_011525060.2:c.2486G>A | XP_011523362.1:p.Arg829Gln | |
| NM_020791.4:c.2486G>A MANE Select | NP_065842.1:p.Arg829Gln |