Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17861345C>T , CM000681.2:g.17861345C>T | GRCh38 |
| NC_000019.9:g.17972154C>T , CM000681.1:g.17972154C>T | GRCh37 |
| NC_000019.8:g.17833154C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000980.4:c.71C>T MANE Select | NP_000971.1:p.Thr24Met |
| ENST00000222247.10:c.71C>T MANE Select | ENSP00000222247.4:p.Thr24Met |
| NM_000980.3:c.71C>T | NP_000971.1:p.Thr24Met |
| ENST00000222247.9:c.71C>T | ENSP00000222247.4:p.Thr24Met |
| ENST00000597648.5:c.-17C>T | ENSP00000473155.1:n.-17C>T |
| ENST00000599870.1:c.-17C>T | ENSP00000471748.1:n.-17C>T |
| ENST00000599898.5:c.33+38C>T | ENSP00000471360.1:n.33+38C>T |
| ENST00000600147.5:c.71C>T | ENSP00000471584.1:p.Thr24Met |
| ENST00000600238.1:n.13C>T | |
| ENST00000602216.1:n.75C>T |