Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.38874596G>A , CM000675.2:g.38874596G>A | GRCh38 |
| NC_000013.10:g.39448733G>A , CM000675.1:g.39448733G>A | GRCh37 |
| NC_000013.9:g.38346733G>A | NCBI36 |
| NG_008125.2:g.192561G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_207361.6:c.8281+10G>A MANE Select | NP_997244.4:n.8281+10G>A |
| ENST00000280481.9:c.8281+10G>A MANE Select | ENSP00000280481.7:n.8281+10G>A |
| NM_207361.5:c.8281+10G>A | NP_997244.4:n.8281+10G>A |
| ENST00000280481.8:c.8281+10G>A | ENSP00000280481.7:n.8281+10G>A |