Linked Data
ClinVar Variation Id:
234446
dbSNP Id:
rs876661024
gnomAD v2:
10-89717609-G-C
COSMIC:
COSM921121
MutSpliceDB:
CA10577419
PubMed:
PMID:28677221
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87957852G>C , CM000672.2:g.87957852G>C | GRCh38 |
| NC_000010.10:g.89717609G>C , CM000672.1:g.89717609G>C | GRCh37 |
| NC_000010.9:g.89707589G>C | NCBI36 |
| NG_007466.2:g.99414G>C , LRG_311:g.99414G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.635-1G>C | ENSP00000514759.2:n.635-1G>C | |
| ENST00000710265.1:c.635-1G>C | ENSP00000518161.1:n.635-1G>C | |
| ENST00000472832.3:c.635-1G>C | ENSP00000483066.2:n.635-1G>C | |
| ENST00000688158.2:n.1370-1G>C | ||
| ENST00000688922.2:c.*465-1G>C | ENSP00000508742.2:n.*465-1G>C | |
| ENST00000700021.1:c.590-1G>C | ENSP00000514757.1:n.590-1G>C | |
| ENST00000700022.1:c.493-1G>C | ENSP00000514758.1:n.493-1G>C | |
| ENST00000700023.1:n.1793-1G>C | ||
| ENST00000700024.1:n.2027-1G>C | ||
| ENST00000700025.1:n.1404-1G>C | ||
| ENST00000700026.1:n.271G>C | ||
| ENST00000700029.1:c.469-1G>C | ||
| ENST00000706954.1:c.635-1G>C | ENSP00000516674.1:n.635-1G>C | |
| ENST00000706955.1:c.*670-1G>C | ENSP00000516675.1:n.*670-1G>C | |
| ENST00000686459.1:c.*221-1G>C | ENSP00000508909.1:n.*221-1G>C | |
| ENST00000688158.1:c.*746-1G>C | ENSP00000509254.1:n.*746-1G>C | |
| ENST00000688308.1:c.635-1G>C | ENSP00000508752.1:n.635-1G>C | |
| ENST00000688922.1:c.556-1G>C | ||
| ENST00000693560.1:c.1154-1G>C | ENSP00000509861.1:n.1154-1G>C | |
| ENST00000371953.8:c.635-1G>C MANE Select | ENSP00000361021.3:n.635-1G>C | |
| ENST00000371953.7:c.635-1G>C | ENSP00000361021.3:n.635-1G>C | |
| ENST00000472832.2:c.62-1G>C | ENSP00000483066.1:n.62-1G>C | |
| NM_000314.5:c.635-1G>C | NP_000305.3:n.635-1G>C | |
| NM_000314.6:c.635-1G>C | NP_000305.3:n.635-1G>C | |
| NM_001304717.2:c.1154-1G>C | NP_001291646.2:n.1154-1G>C | |
| NM_001304718.1:c.44-1G>C | NP_001291647.1:n.44-1G>C | |
| XM_006717926.2:c.590-1G>C | XP_006717989.1:n.590-1G>C | |
| XM_011539981.1:c.635-1G>C | XP_011538283.1:n.635-1G>C | |
| XM_011539982.1:c.539-1G>C | XP_011538284.1:n.539-1G>C | |
| XR_945791.1:n.1205-1G>C | ||
| NM_000314.7:c.635-1G>C | NP_000305.3:n.635-1G>C | |
| NM_001304717.5:c.1154-1G>C | NP_001291646.4:n.1154-1G>C | |
| NM_001304718.2:c.44-1G>C | NP_001291647.1:n.44-1G>C | |
| NM_000314.8:c.635-1G>C MANE Select | NP_000305.3:n.635-1G>C |