Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47839434A>G , CM000681.2:g.47839434A>G | GRCh38 |
| NC_000019.9:g.48342691A>G , CM000681.1:g.48342691A>G | GRCh37 |
| NC_000019.8:g.53034503A>G | NCBI36 |
| NG_008605.1:g.22593A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000554.6:c.367A>G MANE Select | NP_000545.1:p.Thr123Ala |
| ENST00000221996.12:c.367A>G MANE Select | ENSP00000221996.5:p.Thr123Ala |
| NM_000554.4:c.367A>G | NP_000545.1:p.Thr123Ala |
| NM_000554.5:c.367A>G | NP_000545.1:p.Thr123Ala |
| ENST00000221996.11:c.367A>G | ENSP00000221996.5:p.Thr123Ala |
| ENST00000539067.5:c.367A>G | ENSP00000445565.1:p.Thr123Ala |
| ENST00000613299.1:c.*89A>G | ENSP00000478106.1:n.*89A>G |