Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129818899G>A , CM000671.2:g.129818899G>A | GRCh38 |
| NC_000009.11:g.132581178G>A , CM000671.1:g.132581178G>A | GRCh37 |
| NC_000009.10:g.131620999G>A | NCBI36 |
| NG_008049.1:g.10264C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000113.3:c.466C>T MANE Select | NP_000104.1:p.Arg156Ter |
| ENST00000351698.5:c.466C>T MANE Select | ENSP00000345719.4:p.Arg156Ter |
| NM_000113.2:c.466C>T | NP_000104.1:p.Arg156Ter |
| ENST00000351698.4:c.466C>T | ENSP00000345719.4:p.Arg156Ter |
| ENST00000473604.2:n.576C>T | |
| ENST00000651202.1:c.562C>T | ENSP00000498222.1:p.Arg188Ter |
| XR_929731.1:n.626C>T | |
| XR_929731.3:n.494C>T |