Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6712599C>T , CM000681.2:g.6712599C>T | GRCh38 |
| NC_000019.9:g.6712610C>T , CM000681.1:g.6712610C>T | GRCh37 |
| NC_000019.8:g.6663610C>T | NCBI36 |
| NG_009557.1:g.13053G>A , LRG_27:g.13053G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000064.4:c.1028G>A MANE Select | NP_000055.2:p.Arg343His |
| ENST00000245907.11:c.1028G>A MANE Select | ENSP00000245907.4:p.Arg343His |
| NM_000064.3:c.1028G>A | NP_000055.2:p.Arg343His |
| ENST00000245907.10:c.1028G>A | ENSP00000245907.4:p.Arg343His |
| ENST00000594270.5:n.131G>A | |
| ENST00000595577.1:n.532G>A | |
| ENST00000597442.5:n.278G>A | |
| ENST00000695652.1:c.905G>A | ENSP00000512083.1:p.Arg302His |
| ENST00000695654.1:c.152G>A | ENSP00000512085.1:p.Arg51His |
| ENST00000695692.1:n.392G>A |