Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.71941600C>G , CM000674.2:g.71941600C>G | GRCh38 |
| NC_000012.11:g.72335380C>G , CM000674.1:g.72335380C>G | GRCh37 |
| NC_000012.10:g.70621647C>G | NCBI36 |
| NG_008279.1:g.7755C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173353.4:c.122C>G MANE Select | NP_775489.2:p.Ser41Cys |
| ENST00000333850.4:c.122C>G MANE Select | ENSP00000329093.3:p.Ser41Cys |
| NM_173353.3:c.122C>G | NP_775489.2:p.Ser41Cys |
| ENST00000333850.3:c.122C>G | ENSP00000329093.3:p.Ser41Cys |
| ENST00000546576.1:n.132C>G | |
| XR_001748575.1:n.222C>G | |
| XR_245894.2:n.222C>G |