Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.22824002G>C , CM000677.2:g.22824002G>C | GRCh38 |
| NC_000015.9:g.23049066C>G , CM000677.1:g.23049066C>G | GRCh37 |
| NC_000015.8:g.20600507C>G | NCBI36 |
| NG_009056.1:g.42778G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_144599.5:c.753G>C MANE Select | NP_653200.2:p.Ala251= |
| ENST00000337435.9:c.753G>C MANE Select | ENSP00000337452.4:p.Ala251= |
| NM_001142275.1:c.528G>C | NP_001135747.1:p.Ala176= |
| NM_144599.4:c.753G>C | NP_653200.2:p.Ala251= |
| ENST00000337435.8:c.753G>C | ENSP00000337452.4:p.Ala251= |
| ENST00000437912.6:c.528G>C | ENSP00000393962.2:p.Ala176= |
| ENST00000559448.5:c.725G>C | |
| ENST00000561183.5:c.528G>C | ENSP00000453722.1:p.Ala176= |