Linked Data
ClinVar Variation Id:
428256
dbSNP Id:
rs587782603
gnomAD v4:
10-87952118-G-A
COSMIC:
COSM5091
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87952118G>A , CM000672.2:g.87952118G>A | GRCh38 |
| NC_000010.10:g.89711875G>A , CM000672.1:g.89711875G>A | GRCh37 |
| NC_000010.9:g.89701855G>A | NCBI36 |
| NG_007466.2:g.93680G>A , LRG_311:g.93680G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.493G>A | ENSP00000514759.2:p.Gly165Arg | |
| ENST00000710265.1:c.493G>A | ENSP00000518161.1:p.Gly165Arg | |
| ENST00000472832.3:c.493G>A | ENSP00000483066.2:p.Gly165Arg | |
| ENST00000688158.2:n.1228G>A | ||
| ENST00000688922.2:c.*323G>A | ENSP00000508742.2:n.*323G>A | |
| ENST00000700021.1:c.448G>A | ENSP00000514757.1:p.Gly150Arg | |
| ENST00000700022.1:c.493-5735G>A | ENSP00000514758.1:n.493-5735G>A | |
| ENST00000700023.1:n.1651G>A | ||
| ENST00000700024.1:n.1885G>A | ||
| ENST00000700025.1:n.1262G>A | ||
| ENST00000700029.1:c.327G>A | ||
| ENST00000706954.1:c.493G>A | ENSP00000516674.1:p.Gly165Arg | |
| ENST00000706955.1:c.*528G>A | ENSP00000516675.1:n.*528G>A | |
| ENST00000686459.1:c.*79G>A | ENSP00000508909.1:n.*79G>A | |
| ENST00000688158.1:c.*604G>A | ENSP00000509254.1:n.*604G>A | |
| ENST00000688308.1:c.493G>A | ENSP00000508752.1:p.Gly165Arg | |
| ENST00000688922.1:c.414G>A | ||
| ENST00000693560.1:c.1012G>A | ENSP00000509861.1:p.Gly338Arg | |
| ENST00000371953.8:c.493G>A MANE Select | ENSP00000361021.3:p.Gly165Arg | |
| ENST00000371953.7:c.493G>A | ENSP00000361021.3:p.Gly165Arg | |
| NM_000314.5:c.493G>A | NP_000305.3:p.Gly165Arg | |
| NM_000314.6:c.493G>A | NP_000305.3:p.Gly165Arg | |
| NM_001304717.2:c.1012G>A | NP_001291646.2:p.Gly338Arg | |
| NM_001304718.1:c.-99G>A | NP_001291647.1:n.-99G>A | |
| XM_006717926.2:c.448G>A | XP_006717989.1:p.Gly150Arg | |
| XM_011539981.1:c.493G>A | XP_011538283.1:p.Gly165Arg | |
| XM_011539982.1:c.397G>A | XP_011538284.1:p.Gly133Arg | |
| XR_945789.1:n.1364G>A | ||
| XR_945790.1:n.1481G>A | ||
| XR_945791.1:n.1205-5735G>A | ||
| NM_000314.7:c.493G>A | NP_000305.3:p.Gly165Arg | |
| NM_001304717.5:c.1012G>A | NP_001291646.4:p.Gly338Arg | |
| NM_001304718.2:c.-99G>A | NP_001291647.1:n.-99G>A | |
| NM_000314.8:c.493G>A MANE Select | NP_000305.3:p.Gly165Arg |