Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88691951G>A , CM000664.2:g.88691951G>A | GRCh38 |
| NC_000002.11:g.88991469G>A , CM000664.1:g.88991469G>A | GRCh37 |
| NC_000002.10:g.88772584G>A | NCBI36 |
| NG_016710.1:g.5294G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_144563.3:c.253G>A MANE Select | NP_653164.2:p.Ala85Thr |
| ENST00000283646.5:c.253G>A MANE Select | ENSP00000283646.3:p.Ala85Thr |
| NM_144563.2:c.253G>A | NP_653164.2:p.Ala85Thr |
| ENST00000283646.4:c.253G>A | ENSP00000283646.3:p.Ala85Thr |
| XR_939673.1:n.304G>A |