Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.71811798A= , CM000677.2:g.71811798A= | GRCh38 |
| NC_000015.9:g.72104138A= , CM000677.1:g.72104138A= | GRCh37 |
| NC_000015.8:g.69891192A= | NCBI36 |
| NG_009113.2:g.6244A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617575.5:c.278A= MANE Select | ENSP00000482504.1:p.Asp93= | |
| ENST00000617575.4:c.278A= | ENSP00000482504.1:p.Asp93= | |
| ENST00000621098.1:c.278A= | ENSP00000479962.1:p.Asp93= | |
| ENST00000621736.4:c.14A= | ENSP00000479254.1:p.Asp5= | |
| NM_014249.3:c.278A= | NP_055064.1:p.Asp93= | |
| NM_016346.3:c.278A= | NP_057430.1:p.Asp93= | |
| XM_011521146.1:c.14A= | XP_011519448.1:p.Asp5= | |
| NM_014249.4:c.278A= MANE Select | NP_055064.1:p.Asp93= | |
| NM_016346.4:c.278A= | NP_057430.1:p.Asp93= |