Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122460931G= , CM000672.2:g.122460931G= | GRCh38 |
| NC_000010.10:g.124220447G= , CM000672.1:g.124220447G= | GRCh37 |
| NC_000010.9:g.124210437G= | NCBI36 |
| NG_011554.1:g.4407G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000648167.1:c.154+2222G= | ENSP00000498033.1:n.154+2222G= | |
| XR_946382.1:n.410+18C= | ||
| XR_946383.1:n.410+18C= | ||
| XR_946384.1:n.410+18C= | ||
| XR_946385.1:n.410+18C= | ||
| XR_946382.2:n.438+18C= | ||
| XR_946383.2:n.438+18C= | ||
| XR_946384.2:n.414+18C= | ||
| XR_946385.2:n.438+18C= |