Linked Data
ClinVar Variation Id:
375958
ClinVar RCV Id:
RCV000417737
RCV000423561
RCV000425625
RCV000422318
RCV000423355
RCV000433261
RCV000431010
RCV000430748
RCV000433015
RCV000434958
RCV000435427
RCV000440613
RCV000441747
RCV000443803
RCV000444349
RCV000677621
RCV001796030
RCV001808792
RCV000790885
dbSNP Id:
rs121909224
COSMIC:
COSM5219
ERepo:
CA16602437/MONDO:0017623/003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87933147C>G , CM000672.2:g.87933147C>G | GRCh38 |
| NC_000010.10:g.89692904C>G , CM000672.1:g.89692904C>G | GRCh37 |
| NC_000010.9:g.89682884C>G | NCBI36 |
| NG_007466.2:g.74709C>G , LRG_311:g.74709C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.388C>G | ENSP00000514759.2:p.Arg130Gly | |
| ENST00000710265.1:c.388C>G | ENSP00000518161.1:p.Arg130Gly | |
| ENST00000472832.3:c.388C>G | ENSP00000483066.2:p.Arg130Gly | |
| ENST00000688158.2:n.1123C>G | ||
| ENST00000688922.2:c.*218C>G | ENSP00000508742.2:n.*218C>G | |
| ENST00000700021.1:c.343C>G | ENSP00000514757.1:p.Arg115Gly | |
| ENST00000700022.1:c.388C>G | ENSP00000514758.1:p.Arg130Gly | |
| ENST00000700029.1:c.222C>G | ||
| ENST00000706954.1:c.388C>G | ENSP00000516674.1:p.Arg130Gly | |
| ENST00000706955.1:c.*423C>G | ENSP00000516675.1:n.*423C>G | |
| ENST00000686459.1:c.388C>G | ENSP00000508909.1:p.Arg130Gly | |
| ENST00000688158.1:c.*499C>G | ENSP00000509254.1:n.*499C>G | |
| ENST00000688308.1:c.388C>G | ENSP00000508752.1:p.Arg130Gly | |
| ENST00000688922.1:c.309C>G | ||
| ENST00000693560.1:c.907C>G | ENSP00000509861.1:p.Arg303Gly | |
| ENST00000371953.8:c.388C>G MANE Select | ENSP00000361021.3:p.Arg130Gly | |
| ENST00000371953.7:c.388C>G | ENSP00000361021.3:p.Arg130Gly | |
| ENST00000498703.1:n.214C>G | ||
| ENST00000610634.1:c.286C>G | ENSP00000477517.1:p.Arg96Gly | |
| NM_000314.5:c.388C>G | NP_000305.3:p.Arg130Gly | |
| NM_000314.6:c.388C>G | NP_000305.3:p.Arg130Gly | |
| NM_001304717.2:c.907C>G | NP_001291646.2:p.Arg303Gly | |
| NM_001304718.1:c.-363C>G | NP_001291647.1:n.-363C>G | |
| XM_006717926.2:c.343C>G | XP_006717989.1:p.Arg115Gly | |
| XM_011539981.1:c.388C>G | XP_011538283.1:p.Arg130Gly | |
| XM_011539982.1:c.292C>G | XP_011538284.1:p.Arg98Gly | |
| XR_945789.1:n.1100C>G | ||
| XR_945790.1:n.1100C>G | ||
| XR_945791.1:n.1100C>G | ||
| NM_000314.7:c.388C>G | NP_000305.3:p.Arg130Gly | |
| NM_001304717.5:c.907C>G | NP_001291646.4:p.Arg303Gly | |
| NM_001304718.2:c.-363C>G | NP_001291647.1:n.-363C>G | |
| NM_000314.8:c.388C>G MANE Select | NP_000305.3:p.Arg130Gly |