dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.133605461T>G , CM000664.2:g.133605461T>G | GRCh38 |
| NC_000002.11:g.134363032T>G , CM000664.1:g.134363032T>G | GRCh37 |
| NC_000002.10:g.134079502T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_005263660.2:c.-62+35896A>C | XP_005263717.1:n.-62+35896A>C | |
| XM_011511099.1:c.-130+35896A>C | XP_011509401.1:n.-130+35896A>C | |
| XM_011511100.1:c.-129-46344A>C | XP_011509402.1:n.-129-46344A>C | |
| XM_005263660.4:c.-62+35896A>C | XP_005263717.1:n.-62+35896A>C | |
| XM_011511099.3:c.-130+35896A>C | XP_011509401.1:n.-130+35896A>C | |
| XM_011511100.3:c.-129-46344A>C | XP_011509402.1:n.-129-46344A>C | |
| XM_017003975.2:c.-62+69213A>C | XP_016859464.1:n.-62+69213A>C |