Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122455799T>C , CM000672.2:g.122455799T>C | GRCh38 |
| NC_000010.10:g.124215315T>C , CM000672.1:g.124215315T>C | GRCh37 |
| NC_000010.9:g.124205305T>C | NCBI36 |
| NG_011725.1:g.6137T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001099667.3:c.297+775T>C MANE Select | NP_001093137.1:n.297+775T>C |
| ENST00000528446.1:c.297+775T>C MANE Select | ENSP00000436682.1:n.297+775T>C |
| NM_001099667.1:c.297+775T>C | NP_001093137.1:n.297+775T>C |
| NM_001099667.2:c.297+775T>C | NP_001093137.1:n.297+775T>C |
| XR_946382.1:n.1827+2696A>G | |
| XR_946382.2:n.1855+2696A>G | |
| XR_946383.1:n.1827+2696A>G | |
| XR_946383.2:n.1855+2696A>G | |
| XR_946384.1:n.1576+2696A>G | |
| XR_946384.2:n.1580+2696A>G | |
| XR_946385.1:n.1828-778A>G | |
| XR_946385.2:n.1856-778A>G |