Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.103458404G= , CM000672.2:g.103458404G= | GRCh38 |
| NC_000010.10:g.105218161G= , CM000672.1:g.105218161G= | GRCh37 |
| NC_000010.9:g.105208151G= | NCBI36 |
| NG_016855.1:g.5488C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329905.6:c.348C= MANE Select | ENSP00000329926.6:p.Ala116= | |
| ENST00000329905.5:c.348C= | ENSP00000329926.5:p.Ala116= | |
| NM_001001412.3:c.348C= | NP_001001412.3:p.Ala116= | |
| NM_001001412.4:c.348C= MANE Select | NP_001001412.3:p.Ala116= |