Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156657004G>T , CM000663.2:g.156657004G>T | GRCh38 |
| NC_000001.10:g.156626796G>T , CM000663.1:g.156626796G>T | GRCh37 |
| NC_000001.9:g.154893420G>T | NCBI36 |
| NG_030013.1:g.20057G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021948.5:c.2117G>T (BCAN) MANE Select | NP_068767.3:p.Arg706Leu |
| ENST00000329117.10:c.2117G>T (BCAN) MANE Select | ENSP00000331210.4:p.Arg706Leu |
| NM_021948.4:c.2117G>T (BCAN) | NP_068767.3:p.Arg706Leu |
| ENST00000329117.9:c.2117G>T (BCAN) | ENSP00000331210.4:p.Arg706Leu |
| ENST00000496038.1:n.276G>T (BCAN) | |
| XM_011509866.1:c.2117G>T (BCAN) | XP_011508168.1:p.Arg706Leu |
| XM_017002047.1:c.2252G>T (BCAN) | XP_016857536.1:p.Arg751Leu |
| XR_922175.1:n.127+4311C>A (BCAN-AS1) | |
| XR_922175.3:n.95+4311C>A (BCAN-AS1) |