Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129814109G>A , CM000671.2:g.129814109G>A | GRCh38 |
| NC_000009.11:g.132576388G>A , CM000671.1:g.132576388G>A | GRCh37 |
| NC_000009.10:g.131616209G>A | NCBI36 |
| NG_008049.1:g.15054C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000113.3:c.862C>T MANE Select | NP_000104.1:p.Arg288Ter |
| ENST00000351698.5:c.862C>T MANE Select | ENSP00000345719.4:p.Arg288Ter |
| NM_000113.2:c.862C>T | NP_000104.1:p.Arg288Ter |
| ENST00000351698.4:c.862C>T | ENSP00000345719.4:p.Arg288Ter |
| ENST00000474192.1:n.446C>T | |
| ENST00000651202.1:c.*130C>T | ENSP00000498222.1:n.*130C>T |
| XR_929731.1:n.1189C>T | |
| XR_929731.3:n.1057C>T |