Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110179260C= , CM000675.2:g.110179260C= | GRCh38 |
| NC_000013.10:g.110831607C= , CM000675.1:g.110831607C= | GRCh37 |
| NC_000013.9:g.109629608C= | NCBI36 |
| NG_011544.2:g.132890G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375820.10:c.2344+11G= MANE Select | ENSP00000364979.4:n.2344+11G= | |
| ENST00000649738.1:n.2474+11G= | ||
| ENST00000375820.8:c.2344+11G= | ENSP00000364979.4:n.2344+11G= | |
| NM_001845.5:c.2344+11G= | NP_001836.3:n.2344+11G= | |
| XM_011521048.1:c.2152+11G= | XP_011519350.1:n.2152+11G= | |
| XM_011521048.2:c.2152+11G= | XP_011519350.1:n.2152+11G= | |
| NM_001845.6:c.2344+11G= MANE Select | NP_001836.3:n.2344+11G= |