Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129814127G>A , CM000671.2:g.129814127G>A | GRCh38 |
| NC_000009.11:g.132576406G>A , CM000671.1:g.132576406G>A | GRCh37 |
| NC_000009.10:g.131616227G>A | NCBI36 |
| NG_008049.1:g.15036C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000113.3:c.844C>T MANE Select | NP_000104.1:p.Arg282Ter |
| ENST00000351698.5:c.844C>T MANE Select | ENSP00000345719.4:p.Arg282Ter |
| NM_000113.2:c.844C>T | NP_000104.1:p.Arg282Ter |
| ENST00000351698.4:c.844C>T | ENSP00000345719.4:p.Arg282Ter |
| ENST00000474192.1:n.428C>T | |
| ENST00000651202.1:c.*112C>T | ENSP00000498222.1:n.*112C>T |
| XR_929731.1:n.1171C>T | |
| XR_929731.3:n.1039C>T |