Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69353361C>T , CM000674.2:g.69353361C>T | GRCh38 |
| NC_000012.11:g.69747141C>T , CM000674.1:g.69747141C>T | GRCh37 |
| NC_000012.10:g.68033408C>T | NCBI36 |
| NG_008195.1:g.10008C>T , LRG_768:g.10008C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261267.7:c.*142C>T MANE Select | ENSP00000261267.2:n.*142C>T | |
| ENST00000261267.6:c.*142C>T | ENSP00000261267.2:n.*142C>T | |
| ENST00000549690.1:c.*96C>T | ENSP00000449898.1:n.*96C>T | |
| NM_000239.2:c.*142C>T , LRG_768t1:c.*142C>T | NP_000230.1:n.*142C>T | |
| NM_000239.3:c.*142C>T MANE Select | NP_000230.1:n.*142C>T |