dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.90083245A>G , CM000670.2:g.90083245A>G | GRCh38 |
| NC_000008.10:g.91095473A>G , CM000670.1:g.91095473A>G | GRCh37 |
| NC_000008.9:g.91164649A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000514406.2:c.-92-1143T>C | ENSP00000430192.1:n.-92-1143T>C | |
| ENST00000520613.5:c.-92-1143T>C | ENSP00000430281.1:n.-92-1143T>C | |
| ENST00000523716.5:c.-92-1143T>C | ENSP00000429246.1:n.-92-1143T>C |