Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.46057233C= , CM000666.2:g.46057233C= | GRCh38 |
| NC_000004.11:g.46059250C= , CM000666.1:g.46059250C= | GRCh37 |
| NC_000004.10:g.45754007C= | NCBI36 |
| NG_046964.1:g.71833G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173536.4:c.916+984G= MANE Select | NP_775807.2:n.916+984G= |
| ENST00000295452.5:c.916+984G= MANE Select | ENSP00000295452.4:n.916+984G= |
| NM_173536.3:c.916+984G= | NP_775807.2:n.916+984G= |
| ENST00000295452.4:c.916+984G= | ENSP00000295452.4:n.916+984G= |
| XM_017007990.2:c.529+984G= | XP_016863479.1:n.529+984G= |