Linked Data
ClinVar Variation Id:
1933961
ClinVar RCV Id:
RCV002627351
dbSNP Id:
rs775347315
ExAC:
17:54671977 G / A
gnomAD v2:
17-54671977-G-A
gnomAD v3:
17-56594616-G-A
gnomAD v4:
17-56594616-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56594616G>A , CM000679.2:g.56594616G>A | GRCh38 |
| NC_000017.10:g.54671977G>A , CM000679.1:g.54671977G>A | GRCh37 |
| NC_000017.9:g.52026976G>A | NCBI36 |
| NG_011958.1:g.5918G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332822.6:c.393G>A MANE Select | ENSP00000328181.4:p.Gln131= | |
| ENST00000332822.4:c.393G>A | ENSP00000328181.4:p.Gln131= | |
| NM_005450.4:c.393G>A | NP_005441.1:p.Gln131= | |
| NM_005450.6:c.393G>A MANE Select | NP_005441.1:p.Gln131= |