Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11975422G>T , CM000663.2:g.11975422G>T | GRCh38 |
| NC_000001.10:g.12035479G>T , CM000663.1:g.12035479G>T | GRCh37 |
| NC_000001.9:g.11958066G>T | NCBI36 |
| NG_007945.1:g.242G>T , LRG_255:g.242G>T | |
| NG_008159.1:g.45734G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000302.4:c.*614G>T MANE Select | NP_000293.2:n.*614G>T |
| ENST00000196061.5:c.*614G>T MANE Select | ENSP00000196061.4:n.*614G>T |
| NM_000302.3:c.*614G>T | NP_000293.2:n.*614G>T |
| NM_001316320.1:c.*614G>T | NP_001303249.1:n.*614G>T |
| NM_001316320.2:c.*614G>T | NP_001303249.1:n.*614G>T |
| ENST00000196061.4:c.*614G>T | ENSP00000196061.4:n.*614G>T |
| ENST00000481933.1:n.2225G>T | |
| ENST00000491536.5:n.523G>T | |
| XM_011541594.1:c.*614G>T | XP_011539896.1:n.*614G>T |
| XM_024447707.1:c.*614G>T | XP_024303475.1:n.*614G>T |