Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81670928T>A , CM000665.2:g.81670928T>A | GRCh38 |
| NC_000003.11:g.81720079T>A , CM000665.1:g.81720079T>A | GRCh37 |
| NC_000003.10:g.81802769T>A | NCBI36 |
| NG_011810.1:g.95873A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.339A>T MANE Select | ENSP00000410833.2:p.Pro113= | |
| ENST00000429644.6:c.339A>T | ENSP00000410833.2:p.Pro113= | |
| ENST00000477426.1:n.55A>T | ||
| ENST00000489715.1:c.216A>T | ENSP00000419638.1:p.Pro72= | |
| NM_000158.3:c.339A>T | NP_000149.3:p.Pro113= | |
| NM_000158.4:c.339A>T MANE Select | NP_000149.4:p.Pro113= |