Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204160609C>T , CM000663.2:g.204160609C>T | GRCh38 |
| NC_000001.10:g.204129737C>T , CM000663.1:g.204129737C>T | GRCh37 |
| NC_000001.9:g.202396360C>T | NCBI36 |
| NG_012122.1:g.10729G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272190.9:c.443G>A MANE Select | ENSP00000272190.8:p.Arg148His | |
| ENST00000638118.1:c.329G>A | ENSP00000490307.1:p.Arg110His | |
| ENST00000272190.8:c.443G>A | ENSP00000272190.8:p.Arg148His | |
| NM_000537.3:c.443G>A | NP_000528.1:p.Arg148His | |
| NM_000537.4:c.443G>A MANE Select | NP_000528.1:p.Arg148His |