Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.228157775G>A , CM000663.2:g.228157775G>A | GRCh38 |
| NC_000001.10:g.228345476G>A , CM000663.1:g.228345476G>A | GRCh37 |
| NC_000001.9:g.226412099G>A | NCBI36 |
| NG_011838.1:g.12924G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020435.4:c.17G>A MANE Select | NP_065168.2:p.Trp6Ter |
| ENST00000366714.3:c.17G>A MANE Select | ENSP00000355675.2:p.Trp6Ter |
| NM_020435.3:c.17G>A | NP_065168.2:p.Trp6Ter |
| ENST00000366714.2:c.17G>A | ENSP00000355675.2:p.Trp6Ter |