Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.22786697C= , CM000677.2:g.22786697C= | GRCh38 |
| NC_000015.9:g.23086371G= , CM000677.1:g.23086371G= | GRCh37 |
| NC_000015.8:g.20637812G= | NCBI36 |
| NG_009056.1:g.5473C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337435.9:c.41C= MANE Select | ENSP00000337452.4:p.Ala14= | |
| ENST00000337435.8:c.41C= | ENSP00000337452.4:p.Ala14= | |
| ENST00000437912.6:c.-48+12384C= | ENSP00000393962.2:n.-48+12384C= | |
| ENST00000560069.5:n.31+449C= | ||
| ENST00000561183.5:c.-48+449C= | ENSP00000453722.1:n.-48+449C= | |
| NM_001142275.1:c.-48+449C= | NP_001135747.1:n.-48+449C= | |
| NM_144599.4:c.41C= | NP_653200.2:p.Ala14= | |
| NM_144599.5:c.41C= MANE Select | NP_653200.2:p.Ala14= |