Linked Data
ClinVar Variation Id:
1774094
ClinVar RCV Id:
RCV002390011
dbSNP Id:
rs1169795797
gnomAD v2:
7-21856166-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21816548G>A , CM000669.2:g.21816548G>A | GRCh38 |
| NC_000007.13:g.21856166G>A , CM000669.1:g.21856166G>A | GRCh37 |
| NC_000007.12:g.21822691G>A | NCBI36 |
| NG_012886.2:g.278334G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.10414G>A MANE Select | ENSP00000475939.1:p.Gly3472Arg | |
| ENST00000328843.10:c.10435G>A | ENSP00000330671.7:p.Gly3479Arg | |
| ENST00000409508.7:c.10414G>A | ENSP00000475939.1:p.Gly3472Arg | |
| ENST00000620169.4:c.10435G>A | ENSP00000481693.1:p.Gly3479Arg | |
| NM_001277115.1:c.10414G>A | NP_001264044.1:p.Gly3472Arg | |
| NM_001277115.2:c.10414G>A MANE Select | NP_001264044.1:p.Gly3472Arg |