Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56962071G>A , CM000678.2:g.56962071G>A | GRCh38 |
| NC_000016.9:g.56995983G>A , CM000678.1:g.56995983G>A | GRCh37 |
| NC_000016.8:g.55553484G>A | NCBI36 |
| NG_008952.1:g.5149G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000200676.8:c.92G>A MANE Select | ENSP00000200676.3:p.Arg31His | |
| ENST00000200676.7:c.92G>A | ENSP00000200676.3:p.Arg31His | |
| ENST00000379780.6:c.92G>A | ENSP00000369106.2:p.Arg31His | |
| ENST00000569082.1:n.90G>A | ||
| NM_000078.2:c.92G>A | NP_000069.2:p.Arg31His | |
| NM_001286085.1:c.92G>A | NP_001273014.1:p.Arg31His | |
| XM_006721124.2:c.92G>A | XP_006721187.1:p.Arg31His | |
| XM_006721124.3:c.92G>A | XP_006721187.1:p.Arg31His | |
| NM_000078.3:c.92G>A MANE Select | NP_000069.2:p.Arg31His | |
| NM_001286085.2:c.92G>A | NP_001273014.1:p.Arg31His |