Linked Data
dbSNP Id:
rs1599868049
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55989669G>A , CM000681.2:g.55989669G>A | GRCh38 |
| NC_000019.9:g.56501035G>A , CM000681.1:g.56501035G>A | GRCh37 |
| NC_000019.8:g.61192847G>A | NCBI36 |
| NG_046924.1:g.7887G>A | |
| NG_051553.1:g.46838G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011526444.1:c.-72+2848G>A | XP_011524746.1:n.-72+2848G>A |