Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28506336C= , CM000678.2:g.28506336C= | GRCh38 |
| NC_000016.9:g.28517657C= , CM000678.1:g.28517657C= | GRCh37 |
| NC_000016.8:g.28425158C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356897.1:c.31+445G= MANE Select | ENSP00000349365.1:n.31+445G= | |
| ENST00000568075.1:c.-362-2286G= | ENSP00000455990.1:n.-362-2286G= | |
| NM_145659.3:c.31+445G= MANE Select | NP_663634.2:n.31+445G= | |
| XM_011545780.1:c.38-2286G= | XP_011544082.1:n.38-2286G= | |
| XM_011545780.2:c.38-2286G= | XP_011544082.1:n.38-2286G= |