dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.84544635A>C , CM000678.2:g.84544635A>C | GRCh38 |
| NC_000016.9:g.84578241A>C , CM000678.1:g.84578241A>C | GRCh37 |
| NC_000016.8:g.83135742A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000565079.5:c.-26+9311T>G | ENSP00000457557.1:n.-26+9311T>G | |
| XM_011523250.1:c.-26+9311T>G | XP_011521552.1:n.-26+9311T>G |