Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155290254G>A , CM000663.2:g.155290254G>A | GRCh38 |
| NC_000001.10:g.155260045G>A , CM000663.1:g.155260045G>A | GRCh37 |
| NC_000001.9:g.153526669G>A | NCBI36 |
| NG_011677.1:g.16181C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342741.6:c.*318C>T MANE Select | ENSP00000339933.4:n.*318C>T | |
| ENST00000342741.4:c.*318C>T | ENSP00000339933.4:n.*318C>T | |
| ENST00000392414.7:c.*318C>T | ENSP00000376214.3:n.*318C>T | |
| NM_000298.5:c.*318C>T | NP_000289.1:n.*318C>T | |
| NM_181871.3:c.*318C>T | NP_870986.1:n.*318C>T | |
| XM_005245266.3:c.*318C>T | XP_005245323.1:n.*318C>T | |
| NM_000298.6:c.*318C>T MANE Select | NP_000289.1:n.*318C>T | |
| NM_181871.4:c.*318C>T | NP_870986.1:n.*318C>T |