Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201899907G>A , CM000663.2:g.201899907G>A | GRCh38 |
| NC_000001.10:g.201869035G>A , CM000663.1:g.201869035G>A | GRCh37 |
| NC_000001.9:g.200135658G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012134.3:c.1106C>T MANE Select | NP_036266.2:p.Thr369Met |
| ENST00000367288.5:c.1106C>T MANE Select | ENSP00000356257.4:p.Thr369Met |
| NM_012134.2:c.1106C>T | NP_036266.2:p.Thr369Met |
| ENST00000367288.4:c.1106C>T | ENSP00000356257.4:p.Thr369Met |
| ENST00000616739.1:c.591+431C>T | ENSP00000480209.1:n.591+431C>T |