Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100723081G>A , CM000669.2:g.100723081G>A | GRCh38 |
| NC_000007.13:g.100320704G>A , CM000669.1:g.100320704G>A | GRCh37 |
| NC_000007.12:g.100158640G>A | NCBI36 |
| NG_021471.1:g.7282G>A | |
| NG_021471.2:g.7282G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000799.4:c.530G>A MANE Select | NP_000790.2:p.Arg177Gln |
| ENST00000252723.3:c.530G>A MANE Select | ENSP00000252723.2:p.Arg177Gln |
| NM_000799.2:c.530G>A | NP_000790.2:p.Arg177Gln |
| NM_000799.3:c.530G>A | NP_000790.2:p.Arg177Gln |
| ENST00000252723.2:c.530G>A | ENSP00000252723.2:p.Arg177Gln |