Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49070425G>A , CM000681.2:g.49070425G>A | GRCh38 |
| NC_000019.9:g.49573682G>A , CM000681.1:g.49573682G>A | GRCh37 |
| NC_000019.8:g.54265494G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_031886.3:c.1009C>T MANE Select | NP_114092.2:p.Arg337Trp |
| ENST00000221444.2:c.1009C>T MANE Select | ENSP00000221444.1:p.Arg337Trp |
| NM_031886.2:c.1009C>T | NP_114092.2:p.Arg337Trp |
| ENST00000221444.1:c.1009C>T | ENSP00000221444.1:p.Arg337Trp |