Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40441116C= , CM000674.2:g.40441116C= | GRCh38 |
| NC_000012.11:g.40834918C= , CM000674.1:g.40834918C= | GRCh37 |
| NC_000012.10:g.39121185C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173600.2:c.3677C= | NP_775871.2:p.Ser1226= |
| ENST00000454784.10:c.3677C= | ENSP00000508949.1:p.Ser1226= |
| ENST00000454784.9:n.3723C= | |
| XR_001749087.1:n.74+2707G= | |
| XR_001749088.1:n.74+2707G= | |
| XR_944866.1:n.74+2707G= | |
| XR_944867.1:n.74+2707G= | |
| XR_944868.1:n.74+2707G= | |
| XR_944868.2:n.74+2707G= | |
| XR_944869.1:n.74+2707G= | |
| XR_944869.2:n.74+2707G= | |
| XR_944870.1:n.74+2707G= | |
| XR_944871.1:n.74+2707G= | |
| XR_944872.1:n.35G= | |
| XR_944873.1:n.74+2707G= |