Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.58204842A>G , CM000665.2:g.58204842A>G | GRCh38 |
| NC_000003.11:g.58190569A>G , CM000665.1:g.58190569A>G | GRCh37 |
| NC_000003.10:g.58165609A>G | NCBI36 |
| NG_032070.1:g.11162T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004944.4:c.360T>C MANE Select | NP_004935.1:p.His120= |
| ENST00000394549.7:c.360T>C MANE Select | ENSP00000378053.2:p.His120= |
| NM_001256560.1:c.270T>C | NP_001243489.1:p.His90= |
| NM_001256560.2:c.270T>C | NP_001243489.1:p.His90= |
| NM_004944.3:c.360T>C | NP_004935.1:p.His120= |
| ENST00000394549.6:c.360T>C | ENSP00000378053.2:p.His120= |
| ENST00000461914.7:c.360T>C | ENSP00000418113.3:p.His120= |
| ENST00000483681.5:c.360T>C | ENSP00000417047.1:p.His120= |
| ENST00000486455.5:c.270T>C | ENSP00000419052.1:p.His90= |