Linked Data
dbSNP Id:
rs11245954
ExAC:
11:1101078 A / G
gnomAD v2:
11-1101078-A-G
gnomAD v3:
11-1107170-A-G
gnomAD v4:
11-1107170-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1107170A>G , CM000673.2:g.1107170A>G | GRCh38 |
| NC_000011.9:g.1101078A>G , CM000673.1:g.1101078A>G | GRCh37 |
| NC_000011.8:g.1091078A>G | NCBI36 |
| NG_051929.1:g.39193A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361558.7:n.11534A>G | ||
| ENST00000674892.1:c.1981A>G | ENSP00000501871.1:p.Ser661Gly |