Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81578013A>G , CM000665.2:g.81578013A>G | GRCh38 |
| NC_000003.11:g.81627164A>G , CM000665.1:g.81627164A>G | GRCh37 |
| NC_000003.10:g.81709854A>G | NCBI36 |
| NG_011810.1:g.188788T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000429644.7:c.1530T>C MANE Select | ENSP00000410833.2:p.Thr510= | |
| ENST00000429644.6:c.1530T>C | ENSP00000410833.2:p.Thr510= | |
| ENST00000489715.1:c.1407T>C | ENSP00000419638.1:p.Thr469= | |
| NM_000158.3:c.1530T>C | NP_000149.3:p.Thr510= | |
| NM_000158.4:c.1530T>C MANE Select | NP_000149.4:p.Thr510= |