Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.228158043G>A , CM000663.2:g.228158043G>A | GRCh38 |
| NC_000001.10:g.228345744G>A , CM000663.1:g.228345744G>A | GRCh37 |
| NC_000001.9:g.226412367G>A | NCBI36 |
| NG_011838.1:g.13192G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020435.4:c.285G>A MANE Select | NP_065168.2:p.Leu95= |
| ENST00000366714.3:c.285G>A MANE Select | ENSP00000355675.2:p.Leu95= |
| NM_020435.3:c.285G>A | NP_065168.2:p.Leu95= |
| ENST00000366714.2:c.285G>A | ENSP00000355675.2:p.Leu95= |