Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.60586880C= , CM000672.2:g.60586880C= | GRCh38 |
| NC_000010.10:g.62346638C= , CM000672.1:g.62346638C= | GRCh37 |
| NC_000010.9:g.62016644C= | NCBI36 |
| NG_029917.1:g.151647G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001204403.1:c.96+28306G= | NP_001191332.1:n.96+28306G= |
| NM_001204403.2:c.96+28306G= | NP_001191332.1:n.96+28306G= |
| ENST00000373827.6:c.96+28306G= | ENSP00000362933.2:n.96+28306G= |
| ENST00000510382.1:n.101+28306G= | |
| XM_011539700.1:c.102+28306G= | XP_011538002.1:n.102+28306G= |
| XM_011539701.1:c.96+28306G= | XP_011538003.1:n.96+28306G= |
| XM_011539702.1:c.57+146383G= | XP_011538004.1:n.57+146383G= |