Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.9890781G>A , CM000665.2:g.9890781G>A | GRCh38 |
| NC_000003.11:g.9932465G>A , CM000665.1:g.9932465G>A | GRCh37 |
| NC_000003.10:g.9907465G>A | NCBI36 |
| NG_041779.1:g.5195G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032492.4:c.59G>A MANE Select | NP_115881.3:p.Arg20Gln |
| ENST00000647897.1:c.59G>A MANE Select | ENSP00000496942.1:p.Arg20Gln |
| NM_001363890.1:c.-210G>A | NP_001350819.1:n.-210G>A |
| NM_032492.3:c.59G>A | NP_115881.3:p.Arg20Gln |
| ENST00000307768.4:c.59G>A | ENSP00000306106.4:p.Arg20Gln |
| ENST00000489724.1:n.149G>A | |
| ENST00000489724.2:c.59G>A | ENSP00000497724.1:p.Arg20Gln |
| ENST00000616966.2:c.59G>A | ENSP00000481606.1:p.Arg20Gln |