Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6431468G>A , CM000673.2:g.6431468G>A | GRCh38 |
| NC_000011.9:g.6452698G>A , CM000673.1:g.6452698G>A | GRCh37 |
| NC_000011.8:g.6409274G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265983.8:c.1132C>T MANE Select | ENSP00000265983.3:p.Arg378Trp | |
| ENST00000265983.7:c.1132C>T | ENSP00000265983.3:p.Arg378Trp | |
| ENST00000527556.5:n.960C>T | ||
| ENST00000529037.1:n.599C>T | ||
| NM_000613.2:c.1132C>T | NP_000604.1:p.Arg378Trp | |
| XM_005252883.1:c.1132C>T | XP_005252940.1:p.Arg378Trp | |
| NM_000613.3:c.1132C>T MANE Select | NP_000604.1:p.Arg378Trp |