Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15440572C>T , CM000663.2:g.15440572C>T | GRCh38 |
| NC_000001.10:g.15767068C>T , CM000663.1:g.15767068C>T | GRCh37 |
| NC_000001.9:g.15639655C>T | NCBI36 |
| NG_009253.1:g.7131C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.212C>T MANE Select | ENSP00000365116.4:p.Thr71Ile | |
| ENST00000375943.6:c.41-1875C>T | ENSP00000365110.2:n.41-1875C>T | |
| ENST00000375949.4:c.212C>T | ENSP00000365116.4:p.Thr71Ile | |
| ENST00000476813.5:n.53-1875C>T | ||
| ENST00000483406.1:n.122C>T | ||
| NM_007272.2:c.212C>T | NP_009203.2:p.Thr71Ile | |
| XM_011540550.1:c.212C>T | XP_011538852.1:p.Thr71Ile | |
| NM_007272.3:c.212C>T MANE Select | NP_009203.2:p.Thr71Ile |