Linked Data
ClinVar Variation Id:
139568
dbSNP Id:
rs587781255
gnomAD v4:
10-87933138-G-A
COSMIC:
COSM249825
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87933138G>A , CM000672.2:g.87933138G>A | GRCh38 |
| NC_000010.10:g.89692895G>A , CM000672.1:g.89692895G>A | GRCh37 |
| NC_000010.9:g.89682875G>A | NCBI36 |
| NG_007466.2:g.74700G>A , LRG_311:g.74700G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.379G>A | ENSP00000514759.2:p.Gly127Arg | |
| ENST00000710265.1:c.379G>A | ENSP00000518161.1:p.Gly127Arg | |
| ENST00000472832.3:c.379G>A | ENSP00000483066.2:p.Gly127Arg | |
| ENST00000688158.2:n.1114G>A | ||
| ENST00000688922.2:c.*209G>A | ENSP00000508742.2:n.*209G>A | |
| ENST00000700021.1:c.334G>A | ENSP00000514757.1:p.Gly112Arg | |
| ENST00000700022.1:c.379G>A | ENSP00000514758.1:p.Gly127Arg | |
| ENST00000700029.1:c.213G>A | ||
| ENST00000706954.1:c.379G>A | ENSP00000516674.1:p.Gly127Arg | |
| ENST00000706955.1:c.*414G>A | ENSP00000516675.1:n.*414G>A | |
| ENST00000686459.1:c.379G>A | ENSP00000508909.1:p.Gly127Arg | |
| ENST00000688158.1:c.*490G>A | ENSP00000509254.1:n.*490G>A | |
| ENST00000688308.1:c.379G>A | ENSP00000508752.1:p.Gly127Arg | |
| ENST00000688922.1:c.300G>A | ||
| ENST00000693560.1:c.898G>A | ENSP00000509861.1:p.Gly300Arg | |
| ENST00000371953.8:c.379G>A MANE Select | ENSP00000361021.3:p.Gly127Arg | |
| ENST00000371953.7:c.379G>A | ENSP00000361021.3:p.Gly127Arg | |
| ENST00000498703.1:n.205G>A | ||
| ENST00000610634.1:c.277G>A | ENSP00000477517.1:p.Gly93Arg | |
| NM_000314.5:c.379G>A | NP_000305.3:p.Gly127Arg | |
| NM_000314.6:c.379G>A | NP_000305.3:p.Gly127Arg | |
| NM_001304717.2:c.898G>A | NP_001291646.2:p.Gly300Arg | |
| NM_001304718.1:c.-372G>A | NP_001291647.1:n.-372G>A | |
| XM_006717926.2:c.334G>A | XP_006717989.1:p.Gly112Arg | |
| XM_011539981.1:c.379G>A | XP_011538283.1:p.Gly127Arg | |
| XM_011539982.1:c.283G>A | XP_011538284.1:p.Gly95Arg | |
| XR_945789.1:n.1091G>A | ||
| XR_945790.1:n.1091G>A | ||
| XR_945791.1:n.1091G>A | ||
| NM_000314.7:c.379G>A | NP_000305.3:p.Gly127Arg | |
| NM_001304717.5:c.898G>A | NP_001291646.4:p.Gly300Arg | |
| NM_001304718.2:c.-372G>A | NP_001291647.1:n.-372G>A | |
| NM_000314.8:c.379G>A MANE Select | NP_000305.3:p.Gly127Arg |