dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61792609G>T , CM000673.2:g.61792609G>T | GRCh38 |
| NC_000011.9:g.61560081G>T , CM000673.1:g.61560081G>T | GRCh37 |
| NC_000011.8:g.61316657G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000535297.1:c.-51C>A | ENSP00000437809.1:n.-51C>A | |
| ENST00000537328.5:c.-51C>A | ENSP00000443216.1:n.-51C>A | |
| ENST00000543510.1:c.-1159C>A | ENSP00000443836.1:n.-1159C>A | |
| NM_014206.3:c.-51C>A | NP_055021.1:n.-51C>A |