Linked Data
ClinVar Variation Id:
92808
ClinVar RCV Id:
RCV000078600
RCV000131696
RCV000203697
RCV000409463
RCV001647049
RCV001357743
RCV003149763
dbSNP Id:
rs11202592
ExAC:
10:89624218 C / G
gnomAD v2:
10-89624218-C-G
gnomAD v3:
10-87864461-C-G
gnomAD v4:
10-87864461-C-G
COSMIC:
COSM5915
ERepo:
CA000663/MONDO:0017623/003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87864461C>G , CM000672.2:g.87864461C>G | GRCh38 |
| NC_000010.10:g.89624218C>G , CM000672.1:g.89624218C>G | GRCh37 |
| NC_000010.9:g.89614198C>G | NCBI36 |
| NG_007466.2:g.6023C>G , LRG_311:g.6023C>G | |
| NG_033079.1:g.3977G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.-9C>G | ENSP00000514759.2:n.-9C>G | |
| ENST00000710265.1:c.-9C>G | ENSP00000518161.1:n.-9C>G | |
| ENST00000472832.3:c.-9C>G | ENSP00000483066.2:n.-9C>G | |
| ENST00000688922.2:c.-9C>G | ENSP00000508742.2:n.-9C>G | |
| ENST00000700021.1:c.-9C>G | ENSP00000514757.1:n.-9C>G | |
| ENST00000700022.1:c.-9C>G | ENSP00000514758.1:n.-9C>G | |
| ENST00000706954.1:c.-9C>G | ENSP00000516674.1:n.-9C>G | |
| ENST00000706955.1:c.-9C>G | ENSP00000516675.1:n.-9C>G | |
| ENST00000686459.1:c.-9C>G | ENSP00000508909.1:n.-9C>G | |
| ENST00000688158.1:c.-9C>G | ENSP00000509254.1:n.-9C>G | |
| ENST00000688308.1:c.-9C>G | ENSP00000508752.1:n.-9C>G | |
| ENST00000693560.1:c.511C>G | ENSP00000509861.1:p.Leu171Val | |
| ENST00000371953.8:c.-9C>G MANE Select | ENSP00000361021.3:n.-9C>G | |
| ENST00000371953.7:c.-9C>G | ENSP00000361021.3:n.-9C>G | |
| ENST00000487939.1:n.13C>G | ||
| ENST00000610634.1:c.-111C>G | ENSP00000477517.1:n.-111C>G | |
| NM_000314.5:c.-9C>G | NP_000305.3:n.-9C>G | |
| NM_000314.6:c.-9C>G | NP_000305.3:n.-9C>G | |
| NM_001304717.2:c.511C>G | NP_001291646.2:p.Leu171Val | |
| NM_001304718.1:c.-714C>G | NP_001291647.1:n.-714C>G | |
| XM_006717926.2:c.-9C>G | XP_006717989.1:n.-9C>G | |
| XM_011539981.1:c.-9C>G | XP_011538283.1:n.-9C>G | |
| XR_945789.1:n.704C>G | ||
| XR_945790.1:n.704C>G | ||
| XR_945791.1:n.704C>G | ||
| NM_000314.7:c.-9C>G | NP_000305.3:n.-9C>G | |
| NM_001304717.5:c.511C>G | NP_001291646.4:p.Leu171Val | |
| NM_001304718.2:c.-714C>G | NP_001291647.1:n.-714C>G | |
| NM_000314.8:c.-9C>G MANE Select | NP_000305.3:n.-9C>G |