Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.39696833G>A , CM000669.2:g.39696833G>A | GRCh38 |
| NC_000007.13:g.39736432G>A , CM000669.1:g.39736432G>A | GRCh37 |
| NC_000007.12:g.39702957G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005402.4:c.472G>A MANE Select | NP_005393.2:p.Ala158Thr |
| ENST00000005257.7:c.472G>A MANE Select | ENSP00000005257.2:p.Ala158Thr |
| NM_005402.3:c.472G>A | NP_005393.2:p.Ala158Thr |
| ENST00000005257.6:c.472G>A | ENSP00000005257.2:p.Ala158Thr |
| ENST00000434466.1:c.453G>A | |
| ENST00000468201.1:n.410G>A | |
| XM_006715762.2:c.472G>A | XP_006715825.1:p.Ala158Thr |
| XM_006715762.3:c.472G>A | XP_006715825.1:p.Ala158Thr |
| XM_011515466.1:c.472G>A | XP_011513768.1:p.Ala158Thr |