Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.27095698T>G , CM000669.2:g.27095698T>G | GRCh38 |
| NC_000007.13:g.27135317T>G , CM000669.1:g.27135317T>G | GRCh37 |
| NC_000007.12:g.27101842T>G | NCBI36 |
| NG_011813.1:g.5309A>C | |
| NG_033087.1:g.4605T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643460.2:c.215A>C MANE Select | ENSP00000494260.2:p.His72Pro | |
| ENST00000343060.4:c.215A>C | ENSP00000343246.4:p.His72Pro | |
| ENST00000355633.5:c.215A>C | ENSP00000347851.5:p.His72Pro | |
| NM_005522.4:c.215A>C | NP_005513.1:p.His72Pro | |
| NM_153620.2:c.215A>C | NP_705873.2:p.His72Pro | |
| NM_005522.5:c.215A>C MANE Select | NP_005513.2:p.His72Pro | |
| NM_153620.3:c.215A>C | NP_705873.3:p.His72Pro |