Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118110591G>T , CM000670.2:g.118110591G>T | GRCh38 |
| NC_000008.10:g.119122830G>T , CM000670.1:g.119122830G>T | GRCh37 |
| NC_000008.9:g.119192011G>T | NCBI36 |
| NG_007455.2:g.6229C>A , LRG_493:g.6229C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378204.7:c.456C>A MANE Select | ENSP00000367446.3:p.Cys152Ter | |
| ENST00000378204.6:c.456C>A | ENSP00000367446.2:p.Cys152Ter | |
| ENST00000437196.1:c.73+383C>A | ENSP00000407299.1:n.73+383C>A | |
| NM_000127.2:c.456C>A , LRG_493t1:c.456C>A | NP_000118.2:p.Cys152Ter | |
| NM_000127.3:c.456C>A MANE Select | NP_000118.2:p.Cys152Ter |