Linked Data
ClinVar Variation Id:
657016
ClinVar RCV Id:
RCV000813558
dbSNP Id:
rs1241325618
gnomAD v2:
7-128488023-G-A
gnomAD v4:
7-128847969-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128847969G>A , CM000669.2:g.128847969G>A | GRCh38 |
| NC_000007.13:g.128488023G>A , CM000669.1:g.128488023G>A | GRCh37 |
| NC_000007.12:g.128275259G>A | NCBI36 |
| NG_011807.1:g.22541G>A , LRG_870:g.22541G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.4481G>A MANE Select | ENSP00000327145.8:p.Arg1494Gln | |
| ENST00000325888.12:c.4481G>A | ENSP00000327145.8:p.Arg1494Gln | |
| ENST00000346177.6:c.4481G>A | ENSP00000344002.6:p.Arg1494Gln | |
| NM_001127487.1:c.4481G>A | NP_001120959.1:p.Arg1494Gln | |
| NM_001458.4:c.4481G>A , LRG_870t1:c.4481G>A | NP_001449.3:p.Arg1494Gln | |
| NM_001127487.2:c.4481G>A | NP_001120959.1:p.Arg1494Gln | |
| NM_001458.5:c.4481G>A MANE Select | NP_001449.3:p.Arg1494Gln |