Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81670878T= , CM000665.2:g.81670878T= | GRCh38 |
| NC_000003.11:g.81720029T= , CM000665.1:g.81720029T= | GRCh37 |
| NC_000003.10:g.81802719T= | NCBI36 |
| NG_011810.1:g.95923A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.389A= MANE Select | ENSP00000410833.2:p.Gln130= | |
| ENST00000429644.6:c.389A= | ENSP00000410833.2:p.Gln130= | |
| ENST00000477426.1:n.105A= | ||
| ENST00000489715.1:c.266A= | ENSP00000419638.1:p.Gln89= | |
| NM_000158.3:c.389A= | NP_000149.3:p.Gln130= | |
| NM_000158.4:c.389A= MANE Select | NP_000149.4:p.Gln130= |