Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.18041718G>A , CM000682.2:g.18041718G>A | GRCh38 |
| NC_000020.10:g.18022362G>A , CM000682.1:g.18022362G>A | GRCh37 |
| NC_000020.9:g.17970362G>A | NCBI36 |
| NG_046859.1:g.22471C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021220.4:c.327C>T MANE Select | NP_067043.2:p.Thr109= |
| ENST00000278780.7:c.327C>T MANE Select | ENSP00000278780.5:p.Thr109= |
| NM_001303461.1:c.-70C>T | NP_001290390.1:n.-70C>T |
| NM_001303462.1:c.-70C>T | NP_001290391.1:n.-70C>T |
| NM_021220.3:c.327C>T | NP_067043.2:p.Thr109= |
| ENST00000278780.6:c.327C>T | ENSP00000278780.5:p.Thr109= |
| ENST00000462208.1:n.105C>T | |
| ENST00000483661.5:n.388C>T | |
| ENST00000486776.5:n.115C>T | |
| ENST00000494030.1:n.115C>T |