Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69353337C>T , CM000674.2:g.69353337C>T | GRCh38 |
| NC_000012.11:g.69747117C>T , CM000674.1:g.69747117C>T | GRCh37 |
| NC_000012.10:g.68033384C>T | NCBI36 |
| NG_008195.1:g.9984C>T , LRG_768:g.9984C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261267.7:c.*118C>T MANE Select | ENSP00000261267.2:n.*118C>T | |
| ENST00000261267.6:c.*118C>T | ENSP00000261267.2:n.*118C>T | |
| ENST00000549690.1:c.*72C>T | ENSP00000449898.1:n.*72C>T | |
| NM_000239.2:c.*118C>T , LRG_768t1:c.*118C>T | NP_000230.1:n.*118C>T | |
| NM_000239.3:c.*118C>T MANE Select | NP_000230.1:n.*118C>T |