Linked Data
ClinVar Variation Id:
17250
ClinVar RCV Id:
RCV000018790
RCV000413739
RCV000680486
RCV001200183
RCV001162671
RCV001330774
RCV001162670
RCV002415422
RCV002228038
dbSNP Id:
rs72658163
ExAC:
7:94049588 G / A
gnomAD v2:
7-94049588-G-A
gnomAD v3:
7-94420276-G-A
gnomAD v4:
7-94420276-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94420276G>A , CM000669.2:g.94420276G>A | GRCh38 |
| NC_000007.13:g.94049588G>A , CM000669.1:g.94049588G>A | GRCh37 |
| NC_000007.12:g.93887524G>A | NCBI36 |
| NG_007405.1:g.30716G>A , LRG_2:g.30716G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.2123G>A MANE Select | ENSP00000297268.6:p.Arg708Gln | |
| ENST00000297268.10:c.2123G>A | ENSP00000297268.6:p.Arg708Gln | |
| ENST00000461525.5:n.212G>A | ||
| ENST00000467931.1:n.143G>A | ||
| ENST00000473573.5:n.460G>A | ||
| ENST00000497316.5:n.520G>A | ||
| ENST00000620463.1:c.2117G>A | ENSP00000477719.1:p.Arg706Gln | |
| NM_000089.3:c.2123G>A , LRG_2t1:c.2123G>A | NP_000080.2:p.Arg708Gln | |
| NM_000089.4:c.2123G>A MANE Select | NP_000080.2:p.Arg708Gln |