Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.16993141A>T , CM000670.2:g.16993141A>T | GRCh38 |
| NC_000008.10:g.16850650A>T , CM000670.1:g.16850650A>T | GRCh37 |
| NC_000008.9:g.16895021A>T | NCBI36 |
| NG_015978.1:g.14025T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000180166.6:c.567T>A MANE Select | ENSP00000180166.5:p.His189Gln | |
| ENST00000180166.5:c.567T>A | ENSP00000180166.5:p.His189Gln | |
| ENST00000519941.1:c.271T>A | ||
| NM_019851.2:c.567T>A | NP_062825.1:p.His189Gln | |
| NM_019851.3:c.567T>A MANE Select | NP_062825.1:p.His189Gln |