Linked Data
dbSNP Id:
rs73001406
gnomAD v2:
11-118560857-G-A
gnomAD v3:
11-118690148-G-A
gnomAD v4:
11-118690148-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118690148G>A , CM000673.2:g.118690148G>A | GRCh38 |
| NC_000011.9:g.118560857G>A , CM000673.1:g.118560857G>A | GRCh37 |
| NC_000011.8:g.118066067G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000531328.2:n.216-23C>T | ||
| ENST00000531328.1:n.99C>T |