Linked Data
dbSNP Id:
rs993158658
gnomAD v2:
11-1075488-A-G
gnomAD v3:
11-1075488-A-G
gnomAD v4:
11-1075488-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1075488A>G , CM000673.2:g.1075488A>G | GRCh38 |
| NC_000011.9:g.1075488A>G , CM000673.1:g.1075488A>G | GRCh37 |
| NC_000011.8:g.1065488A>G | NCBI36 |
| NG_051929.1:g.5614A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361558.7:n.104-163A>G | ||
| ENST00000675028.1:c.77-163A>G | ENSP00000502432.1:n.77-163A>G | |
| NM_002457.3:c.77-163A>G | NP_002448.3:n.77-163A>G | |
| NM_002457.4:c.77-163A>G | NP_002448.4:n.77-163A>G |