Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.34823309C>A , CM000668.2:g.34823309C>A | GRCh38 |
| NC_000006.11:g.34791086C>A , CM000668.1:g.34791086C>A | GRCh37 |
| NC_000006.10:g.34899064C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000192788.6:c.299C>A MANE Select | ENSP00000192788.5:p.Pro100His | |
| ENST00000192788.5:c.299C>A | ENSP00000192788.5:p.Pro100His | |
| ENST00000452449.6:c.299C>A | ENSP00000400628.2:p.Pro100His | |
| NM_017754.3:c.299C>A | NP_060224.3:p.Pro100His | |
| XM_006715126.2:c.299C>A | XP_006715189.1:p.Pro100His | |
| XM_011514714.1:c.299C>A | XP_011513016.1:p.Pro100His | |
| NM_017754.4:c.299C>A MANE Select | NP_060224.3:p.Pro100His |