Linked Data
ClinVar Variation Id:
359659
ClinVar RCV Id:
RCV000290418
dbSNP Id:
rs372633683
ExAC:
7:21788221 G / A
gnomAD v2:
7-21788221-G-A
gnomAD v3:
7-21748603-G-A
gnomAD v4:
7-21748603-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21748603G>A , CM000669.2:g.21748603G>A | GRCh38 |
| NC_000007.13:g.21788221G>A , CM000669.1:g.21788221G>A | GRCh37 |
| NC_000007.12:g.21754746G>A | NCBI36 |
| NG_012886.2:g.210389G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.8534G>A MANE Select | ENSP00000475939.1:p.Arg2845Gln | |
| ENST00000328843.10:c.8555G>A | ENSP00000330671.7:p.Arg2852Gln | |
| ENST00000409508.7:c.8534G>A | ENSP00000475939.1:p.Arg2845Gln | |
| ENST00000620169.4:c.8555G>A | ENSP00000481693.1:p.Arg2852Gln | |
| NM_001277115.1:c.8534G>A | NP_001264044.1:p.Arg2845Gln | |
| NM_001277115.2:c.8534G>A MANE Select | NP_001264044.1:p.Arg2845Gln |