Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159315006G>A , CM000667.2:g.159315006G>A | GRCh38 |
| NC_000005.9:g.158742014G>A , CM000667.1:g.158742014G>A | GRCh37 |
| NC_000005.8:g.158674592G>A | NCBI36 |
| NG_009618.1:g.20468C>T , LRG_71:g.20468C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002187.3:c.*1095C>T MANE Select | NP_002178.2:n.*1095C>T |
| ENST00000231228.3:c.*1095C>T MANE Select | ENSP00000231228.2:n.*1095C>T |
| NM_002187.2:c.*1095C>T , LRG_71t1:c.*1095C>T | NP_002178.2:n.*1095C>T |
| ENST00000231228.2:c.*1095C>T | ENSP00000231228.2:n.*1095C>T |
| ENST00000696750.1:c.*1095C>T | ENSP00000512849.1:n.*1095C>T |
| ENST00000696751.1:c.*1577C>T | ENSP00000512850.1:n.*1577C>T |
| XR_941138.1:n.364-212G>A | |
| XR_941138.2:n.431-212G>A |