Linked Data
ClinVar Variation Id:
430022
dbSNP Id:
rs988027905
gnomAD v2:
15-42686494-G-A
gnomAD v4:
15-42394296-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42394296G>A , CM000677.2:g.42394296G>A | GRCh38 |
| NC_000015.9:g.42686494G>A , CM000677.1:g.42686494G>A | GRCh37 |
| NC_000015.8:g.40473786G>A | NCBI36 |
| NG_008660.1:g.51194G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349748.8:c.926G>A | ENSP00000183936.4:p.Arg309Gln | |
| ENST00000357568.8:c.1070G>A | ENSP00000350181.3:p.Arg357Gln | |
| ENST00000397163.8:c.1070G>A MANE Select | ENSP00000380349.3:p.Arg357Gln | |
| ENST00000466369.5:n.1579G>A | ||
| ENST00000483208.5:n.1301G>A | ||
| ENST00000495723.1:n.1301G>A | ||
| ENST00000549793.5:n.1301G>A | ||
| ENST00000638141.2:n.941G>A | ||
| ENST00000673658.1:n.54G>A | ||
| ENST00000673705.1:c.71-2504G>A | ENSP00000501021.1:n.71-2504G>A | |
| ENST00000318023.11:c.926G>A | ENSP00000326281.8:p.Arg309Gln | |
| ENST00000349748.7:c.926G>A | ENSP00000183936.4:p.Arg309Gln | |
| ENST00000357568.7:c.1070G>A | ENSP00000350181.3:p.Arg357Gln | |
| ENST00000397163.7:c.1070G>A | ENSP00000380349.3:p.Arg357Gln | |
| NM_000070.2:c.1070G>A | NP_000061.1:p.Arg357Gln | |
| NM_024344.1:c.1070G>A | NP_077320.1:p.Arg357Gln | |
| NM_173087.1:c.926G>A | NP_775110.1:p.Arg309Gln | |
| NM_000070.3:c.1070G>A MANE Select | NP_000061.1:p.Arg357Gln | |
| NM_024344.2:c.1070G>A | NP_077320.1:p.Arg357Gln | |
| NM_173087.2:c.926G>A | NP_775110.1:p.Arg309Gln |