Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81670853A>G , CM000665.2:g.81670853A>G | GRCh38 |
| NC_000003.11:g.81720004A>G , CM000665.1:g.81720004A>G | GRCh37 |
| NC_000003.10:g.81802694A>G | NCBI36 |
| NG_011810.1:g.95948T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.414T>C MANE Select | ENSP00000410833.2:p.His138= | |
| ENST00000429644.6:c.414T>C | ENSP00000410833.2:p.His138= | |
| ENST00000477426.1:n.130T>C | ||
| ENST00000489715.1:c.291T>C | ENSP00000419638.1:p.His97= | |
| NM_000158.3:c.414T>C | NP_000149.3:p.His138= | |
| NM_000158.4:c.414T>C MANE Select | NP_000149.4:p.His138= |