Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271091C>A , CM000668.2:g.31271091C>A | GRCh38 |
| NC_000006.11:g.31238868C>A , CM000668.1:g.31238868C>A | GRCh37 |
| NC_000006.10:g.31346847C>A | NCBI36 |
| NG_029422.2:g.6041G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002117.6:c.601G>T MANE Select | NP_002108.4:p.Glu201Ter |
| ENST00000376228.10:c.601G>T MANE Select | ENSP00000365402.5:p.Glu201Ter |
| NM_002117.5:c.601G>T | NP_002108.4:p.Glu201Ter |
| ENST00000376228.9:c.601G>T | ENSP00000365402.5:p.Glu201Ter |
| ENST00000376237.8:c.*188G>T | ENSP00000365412.4:n.*188G>T |
| ENST00000383329.7:c.601G>T | ENSP00000372819.3:p.Glu201Ter |
| ENST00000415537.1:c.599G>T | |
| ENST00000487245.5:n.960G>T | |
| ENST00000495835.1:n.790G>T |