Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.144377836G= , CM000669.2:g.144377836G= | GRCh38 |
| NC_000007.13:g.144074929G= , CM000669.1:g.144074929G= | GRCh37 |
| NC_000007.12:g.143705862G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000056217.10:c.4531+646G= MANE Select | ENSP00000056217.5:n.4531+646G= | |
| ENST00000056217.9:c.4531+646G= | ENSP00000056217.5:n.4531+646G= | |
| ENST00000471847.2:c.1297+646G= | ENSP00000418227.1:n.1297+646G= | |
| ENST00000474817.5:c.2130+646G= | ||
| NM_005435.3:c.4531+646G= | NP_005426.2:n.4531+646G= | |
| NM_005435.4:c.4531+646G= MANE Select | NP_005426.2:n.4531+646G= |