Linked Data
dbSNP Id:
rs771781780
ExAC:
20:44639566 G / A
gnomAD v2:
20-44639566-G-A
gnomAD v4:
20-46010927-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46010927G>A , CM000682.2:g.46010927G>A | GRCh38 |
| NC_000020.10:g.44639566G>A , CM000682.1:g.44639566G>A | GRCh37 |
| NC_000020.9:g.44072973G>A | NCBI36 |
| NG_011468.1:g.7020G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372330.3:c.526G>A MANE Select | ENSP00000361405.3:p.Gly176Arg | |
| NM_004994.2:c.526G>A | NP_004985.2:p.Gly176Arg | |
| NM_004994.3:c.526G>A MANE Select | NP_004985.2:p.Gly176Arg |