Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.71978821C>T , CM000674.2:g.71978821C>T | GRCh38 |
| NC_000012.11:g.72372601C>T , CM000674.1:g.72372601C>T | GRCh37 |
| NC_000012.10:g.70658868C>T | NCBI36 |
| NG_008279.1:g.44976C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173353.4:c.806-131C>T MANE Select | NP_775489.2:n.806-131C>T |
| ENST00000333850.4:c.806-131C>T MANE Select | ENSP00000329093.3:n.806-131C>T |
| NM_173353.3:c.806-131C>T | NP_775489.2:n.806-131C>T |
| ENST00000333850.3:c.806-131C>T | ENSP00000329093.3:n.806-131C>T |
| XM_011537899.1:c.212-131C>T | XP_011536201.1:n.212-131C>T |