Linked Data
ClinVar Variation Id:
1276338
ClinVar RCV Id:
RCV001687530
dbSNP Id:
rs11632698
gnomAD v2:
15-74637867-A-G
gnomAD v3:
15-74345526-A-G
gnomAD v4:
15-74345526-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74345526A>G , CM000677.2:g.74345526A>G | GRCh38 |
| NC_000015.9:g.74637867A>G , CM000677.1:g.74637867A>G | GRCh37 |
| NC_000015.8:g.72424920A>G | NCBI36 |
| NG_007973.1:g.27216T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000268053.11:c.426-283T>C MANE Select | ENSP00000268053.6:n.426-283T>C | |
| ENST00000268053.10:c.426-283T>C | ENSP00000268053.6:n.426-283T>C | |
| ENST00000358632.8:c.-49-283T>C | ENSP00000351455.4:n.-49-283T>C | |
| ENST00000416978.1:c.426-236T>C | ENSP00000388018.1:n.426-236T>C | |
| ENST00000435365.5:c.426-283T>C | ENSP00000391081.1:n.426-283T>C | |
| ENST00000450547.1:c.-49-283T>C | ENSP00000402064.1:n.-49-283T>C | |
| ENST00000466978.1:n.820-283T>C | ||
| ENST00000566674.5:c.-49-283T>C | ENSP00000456941.1:n.-49-283T>C | |
| ENST00000569662.1:c.-49-283T>C | ENSP00000456598.1:n.-49-283T>C | |
| NM_000781.2:c.426-283T>C | NP_000772.2:n.426-283T>C | |
| NM_001099773.1:c.-49-283T>C | NP_001093243.1:n.-49-283T>C | |
| NM_000781.3:c.426-283T>C MANE Select | NP_000772.2:n.426-283T>C | |
| NM_001099773.2:c.-49-283T>C | NP_001093243.1:n.-49-283T>C |