Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1423553C>T , CM000679.2:g.1423553C>T | GRCh38 |
| NC_000017.10:g.1326847C>T , CM000679.1:g.1326847C>T | GRCh37 |
| NC_000017.9:g.1273597C>T | NCBI36 |
| NG_029008.1:g.37698G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300574.3:c.875G>A MANE Select | ENSP00000300574.2:p.Arg292His | |
| ENST00000300574.2:c.875G>A | ENSP00000300574.2:p.Arg292His | |
| ENST00000398970.5:c.*90G>A | ENSP00000381942.5:n.*90G>A | |
| ENST00000572145.1:n.674G>A | ||
| ENST00000574295.1:c.400-368G>A | ENSP00000459505.1:n.400-368G>A | |
| NM_005206.4:c.*90G>A | NP_005197.3:n.*90G>A | |
| NM_016823.3:c.875G>A | NP_058431.2:p.Arg292His | |
| NM_016823.4:c.875G>A MANE Select | NP_058431.2:p.Arg292His | |
| NM_005206.5:c.*90G>A | NP_005197.3:n.*90G>A |