Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.22786790C>A , CM000677.2:g.22786790C>A | GRCh38 |
| NC_000015.9:g.23086278G>T , CM000677.1:g.23086278G>T | GRCh37 |
| NC_000015.8:g.20637719G>T | NCBI36 |
| NG_009056.1:g.5566C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_144599.5:c.134C>A MANE Select | NP_653200.2:p.Thr45Lys |
| ENST00000337435.9:c.134C>A MANE Select | ENSP00000337452.4:p.Thr45Lys |
| NM_001142275.1:c.-48+542C>A | NP_001135747.1:n.-48+542C>A |
| NM_144599.4:c.134C>A | NP_653200.2:p.Thr45Lys |
| ENST00000337435.8:c.134C>A | ENSP00000337452.4:p.Thr45Lys |
| ENST00000437912.6:c.-48+12477C>A | ENSP00000393962.2:n.-48+12477C>A |
| ENST00000559448.5:c.24C>A | |
| ENST00000560069.5:n.31+542C>A | |
| ENST00000560105.1:n.33C>A | |
| ENST00000561183.5:c.-48+542C>A | ENSP00000453722.1:n.-48+542C>A |