Linked Data
ClinVar Variation Id:
2075078
ClinVar RCV Id:
RCV002963266
dbSNP Id:
rs769152755
ExAC:
7:21847663 A / G
gnomAD v2:
7-21847663-A-G
gnomAD v3:
7-21808045-A-G
gnomAD v4:
7-21808045-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21808045A>G , CM000669.2:g.21808045A>G | GRCh38 |
| NC_000007.13:g.21847663A>G , CM000669.1:g.21847663A>G | GRCh37 |
| NC_000007.12:g.21814188A>G | NCBI36 |
| NG_012886.2:g.269831A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.10328A>G MANE Select | ENSP00000475939.1:p.Gln3443Arg | |
| ENST00000328843.10:c.10349A>G | ENSP00000330671.7:p.Gln3450Arg | |
| ENST00000409508.7:c.10328A>G | ENSP00000475939.1:p.Gln3443Arg | |
| ENST00000620169.4:c.10349A>G | ENSP00000481693.1:p.Gln3450Arg | |
| NM_001277115.1:c.10328A>G | NP_001264044.1:p.Gln3443Arg | |
| NM_001277115.2:c.10328A>G MANE Select | NP_001264044.1:p.Gln3443Arg |