Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46701275C>T , CM000665.2:g.46701275C>T | GRCh38 |
| NC_000003.11:g.46742765C>T , CM000665.1:g.46742765C>T | GRCh37 |
| NC_000003.10:g.46717769C>T | NCBI36 |
| NG_011628.1:g.4943C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001370524.1:c.-66-4515C>T | NP_001357453.1:n.-66-4515C>T |
| NM_001370525.1:c.-66-4515C>T | NP_001357454.1:n.-66-4515C>T |
| ENST00000644830.1:c.-66-4515C>T | ENSP00000495111.1:n.-66-4515C>T |
| XM_006713097.2:c.-66-4515C>T | XP_006713160.1:n.-66-4515C>T |
| XM_006713097.4:c.-66-4515C>T | XP_006713160.1:n.-66-4515C>T |
| XM_011533574.1:c.-66-4515C>T | XP_011531876.1:n.-66-4515C>T |
| XM_024453446.1:c.-66-4515C>T | XP_024309214.1:n.-66-4515C>T |