Linked Data
dbSNP Id:
rs577493655
gnomAD v2:
11-5274356-A-G
gnomAD v3:
11-5253126-A-G
gnomAD v4:
11-5253126-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5253126A>G , CM000673.2:g.5253126A>G | GRCh38 |
| NC_000011.9:g.5274356A>G , CM000673.1:g.5274356A>G | GRCh37 |
| NC_000011.8:g.5230932A>G | NCBI36 |
| NG_000007.3:g.44490T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642908.1:c.315+1166T>C | ENSP00000495346.1:n.315+1166T>C | |
| ENST00000647543.1:c.378+217T>C | ENSP00000496470.1:n.378+217T>C | |
| ENST00000620888.4:c.315+1166T>C | ENSP00000479637.1:n.315+1166T>C |