Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204166247A>T , CM000663.2:g.204166247A>T | GRCh38 |
| NC_000001.10:g.204135375A>T , CM000663.1:g.204135375A>T | GRCh37 |
| NC_000001.9:g.202401998A>T | NCBI36 |
| NG_012122.1:g.5091T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272190.9:c.47T>A MANE Select | ENSP00000272190.8:p.Leu16His | |
| ENST00000638118.1:c.-16-4084T>A | ENSP00000490307.1:n.-16-4084T>A | |
| ENST00000272190.8:c.47T>A | ENSP00000272190.8:p.Leu16His | |
| NM_000537.3:c.47T>A | NP_000528.1:p.Leu16His | |
| NM_000537.4:c.47T>A MANE Select | NP_000528.1:p.Leu16His |