Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18786585C>G , CM000681.2:g.18786585C>G | GRCh38 |
| NC_000019.9:g.18897395C>G , CM000681.1:g.18897395C>G | GRCh37 |
| NC_000019.8:g.18758395C>G | NCBI36 |
| NG_007070.1:g.9720G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000095.3:c.1201G>C MANE Select | NP_000086.2:p.Asp401His |
| ENST00000222271.7:c.1201G>C MANE Select | ENSP00000222271.2:p.Asp401His |
| NM_000095.2:c.1201G>C | NP_000086.2:p.Asp401His |
| ENST00000222271.6:c.1201G>C | ENSP00000222271.2:p.Asp401His |
| ENST00000425807.1:c.1042G>C | ENSP00000403792.1:p.Asp348His |
| ENST00000542601.6:c.1102G>C | ENSP00000439156.2:p.Asp368His |
| ENST00000612179.1:n.451G>C |