Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.22823930C>T , CM000677.2:g.22823930C>T | GRCh38 |
| NC_000015.9:g.23049138G>A , CM000677.1:g.23049138G>A | GRCh37 |
| NC_000015.8:g.20600579G>A | NCBI36 |
| NG_009056.1:g.42706C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_144599.5:c.681C>T MANE Select | NP_653200.2:p.Leu227= |
| ENST00000337435.9:c.681C>T MANE Select | ENSP00000337452.4:p.Leu227= |
| NM_001142275.1:c.456C>T | NP_001135747.1:p.Leu152= |
| NM_144599.4:c.681C>T | NP_653200.2:p.Leu227= |
| ENST00000337435.8:c.681C>T | ENSP00000337452.4:p.Leu227= |
| ENST00000437912.6:c.456C>T | ENSP00000393962.2:p.Leu152= |
| ENST00000559448.5:c.653C>T | |
| ENST00000561183.5:c.456C>T | ENSP00000453722.1:p.Leu152= |