Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10648703C>T , CM000682.2:g.10648703C>T | GRCh38 |
| NC_000020.10:g.10629351C>T , CM000682.1:g.10629351C>T | GRCh37 |
| NC_000020.9:g.10577351C>T | NCBI36 |
| NG_007496.1:g.30344G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.1415G>A MANE Select | NP_000205.1:p.Arg472His |
| ENST00000254958.10:c.1415G>A MANE Select | ENSP00000254958.4:p.Arg472His |
| NM_000214.2:c.1415G>A | NP_000205.1:p.Arg472His |
| ENST00000254958.9:c.1415G>A | ENSP00000254958.4:p.Arg472His |
| ENST00000423891.6:n.1281G>A | |
| ENST00000617965.2:n.2004G>A | |
| ENST00000620743.1:n.472G>A | |
| ENST00000622545.1:c.173-27G>A |