Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40429614C>T , CM000674.2:g.40429614C>T | GRCh38 |
| NC_000012.11:g.40823416C>T , CM000674.1:g.40823416C>T | GRCh37 |
| NC_000012.10:g.39109683C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000454784.10:c.2469C>T | ENSP00000508949.1:p.Ser823= | |
| ENST00000454784.9:n.2515C>T | ||
| NM_173600.2:c.2469C>T | NP_775871.2:p.Ser823= | |
| XR_944866.1:n.75-9303G>A | ||
| XR_944867.1:n.75-9303G>A | ||
| XR_944868.1:n.75-9303G>A | ||
| XR_944869.1:n.75-9303G>A | ||
| XR_944870.1:n.75-9303G>A | ||
| XR_944871.1:n.75-9303G>A | ||
| XR_944872.1:n.81-9303G>A | ||
| XR_944873.1:n.75-9303G>A | ||
| XR_001749087.1:n.75-9303G>A | ||
| XR_001749088.1:n.75-9303G>A | ||
| XR_944868.2:n.75-9303G>A | ||
| XR_944869.2:n.75-9303G>A |