Linked Data
dbSNP Id:
rs2236659
gnomAD v2:
11-122933181-A-G
gnomAD v3:
11-123062473-A-G
gnomAD v4:
11-123062473-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.123062473A>G , CM000673.2:g.123062473A>G | GRCh38 |
| NC_000011.9:g.122933181A>G , CM000673.1:g.122933181A>G | GRCh37 |
| NC_000011.8:g.122438391A>G | NCBI36 |
| NG_029473.1:g.4664T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525624.5:c.-6+277T>C | ENSP00000435154.1:n.-6+277T>C | |
| ENST00000532780.5:n.197T>C | ||
| XR_246494.3:n.7A>G | ||
| XR_429008.2:n.7A>G | ||
| XR_246494.4:n.3A>G |