Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156658603G>A , CM000663.2:g.156658603G>A | GRCh38 |
| NC_000001.10:g.156628395G>A , CM000663.1:g.156628395G>A | GRCh37 |
| NC_000001.9:g.154895019G>A | NCBI36 |
| NG_030013.1:g.21656G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021948.5:c.2498G>A (BCAN) MANE Select | NP_068767.3:p.Arg833His |
| ENST00000329117.10:c.2498G>A (BCAN) MANE Select | ENSP00000331210.4:p.Arg833His |
| NM_021948.4:c.2498G>A (BCAN) | NP_068767.3:p.Arg833His |
| ENST00000329117.9:c.2498G>A (BCAN) | ENSP00000331210.4:p.Arg833His |
| ENST00000496038.1:n.1235G>A (BCAN) | |
| XM_011509866.1:c.2498G>A (BCAN) | XP_011508168.1:p.Arg833His |
| XM_017002047.1:c.2633G>A (BCAN) | XP_016857536.1:p.Arg878His |
| XR_922175.1:n.127+2712C>T (BCAN-AS1) | |
| XR_922175.3:n.95+2712C>T (BCAN-AS1) |