Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50191808G>A , CM000665.2:g.50191808G>A | GRCh38 |
| NC_000003.11:g.50229241G>A , CM000665.1:g.50229241G>A | GRCh37 |
| NC_000003.10:g.50204245G>A | NCBI36 |
| NG_009831.1:g.5199G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_144499.3:c.83G>A MANE Select | NP_653082.1:p.Arg28Gln |
| ENST00000232461.8:c.83G>A MANE Select | ENSP00000232461.3:p.Arg28Gln |
| NM_000172.3:c.83G>A | NP_000163.2:p.Arg28Gln |
| NM_000172.4:c.83G>A | NP_000163.2:p.Arg28Gln |
| NM_144499.2:c.83G>A | NP_653082.1:p.Arg28Gln |
| ENST00000232461.7:c.83G>A | ENSP00000232461.3:p.Arg28Gln |
| ENST00000433068.5:c.83G>A | ENSP00000387555.1:p.Arg28Gln |