Linked Data
dbSNP Id:
rs771940053
ExAC:
11:1075617 G / A
gnomAD v2:
11-1075617-G-A
gnomAD v3:
11-1075617-G-A
gnomAD v4:
11-1075617-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1075617G>A , CM000673.2:g.1075617G>A | GRCh38 |
| NC_000011.9:g.1075617G>A , CM000673.1:g.1075617G>A | GRCh37 |
| NC_000011.8:g.1065617G>A | NCBI36 |
| NG_051929.1:g.5743G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361558.7:n.104-34G>A | ||
| ENST00000675028.1:c.77-34G>A | ENSP00000502432.1:n.77-34G>A | |
| NM_002457.3:c.77-34G>A | NP_002448.3:n.77-34G>A | |
| NM_002457.4:c.77-34G>A | NP_002448.4:n.77-34G>A |