Linked Data
dbSNP Id:
rs306450
gnomAD v2:
19-56501050-A-G
gnomAD v3:
19-55989684-A-G
gnomAD v4:
19-55989684-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55989684A>G , CM000681.2:g.55989684A>G | GRCh38 |
| NC_000019.9:g.56501050A>G , CM000681.1:g.56501050A>G | GRCh37 |
| NC_000019.8:g.61192862A>G | NCBI36 |
| NG_046924.1:g.7902A>G | |
| NG_051553.1:g.46853A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XM_011526444.1:c.-72+2863A>G | XP_011524746.1:n.-72+2863A>G |