Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18783068C>T , CM000681.2:g.18783068C>T | GRCh38 |
| NC_000019.9:g.18893878C>T , CM000681.1:g.18893878C>T | GRCh37 |
| NC_000019.8:g.18754878C>T | NCBI36 |
| NG_007070.1:g.13237G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000095.3:c.2213G>A MANE Select | NP_000086.2:p.Arg738His |
| ENST00000222271.7:c.2213G>A MANE Select | ENSP00000222271.2:p.Arg738His |
| NM_000095.2:c.2213G>A | NP_000086.2:p.Arg738His |
| ENST00000222271.6:c.2213G>A | ENSP00000222271.2:p.Arg738His |
| ENST00000425807.1:c.2054G>A | ENSP00000403792.1:p.Arg685His |
| ENST00000542601.6:c.2114G>A | ENSP00000439156.2:p.Arg705His |