Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.199925657G>A , CM000664.2:g.199925657G>A | GRCh38 |
| NC_000002.11:g.200790380G>A , CM000664.1:g.200790380G>A | GRCh37 |
| NC_000002.10:g.200498625G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_153689.6:c.929G>A MANE Select | NP_710156.3:p.Trp310Ter |
| ENST00000319974.6:c.929G>A MANE Select | ENSP00000312770.5:p.Trp310Ter |
| NM_153689.5:c.929G>A | NP_710156.3:p.Trp310Ter |
| ENST00000319974.5:c.929G>A | ENSP00000312770.5:p.Trp310Ter |
| ENST00000491721.1:n.466+13886G>A |