Linked Data
dbSNP Id:
rs1323744034
gnomAD v2:
15-78827090-A-G
gnomAD v3:
15-78534748-A-G
gnomAD v4:
15-78534748-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78534748A>G , CM000677.2:g.78534748A>G | GRCh38 |
| NC_000015.9:g.78827090A>G , CM000677.1:g.78827090A>G | GRCh37 |
| NC_000015.8:g.76614145A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388988.9:c.*1078A>G MANE Select | ENSP00000373640.4:n.*1078A>G | |
| ENST00000408962.6:c.662-2552A>G | ENSP00000386197.2:n.662-2552A>G | |
| ENST00000563233.2:c.662-2552A>G | ENSP00000454850.1:n.662-2552A>G | |
| ENST00000569878.5:c.2200A>G | ENSP00000455459.1:n.2200A>G | |
| NM_001083612.1:c.662-2552A>G | NP_001077081.1:n.662-2552A>G | |
| NM_001013619.3:c.*1078A>G | NP_001013641.2:n.*1078A>G | |
| NM_001013619.4:c.*1078A>G MANE Select | NP_001013641.2:n.*1078A>G | |
| NM_001083612.2:c.662-2552A>G | NP_001077081.1:n.662-2552A>G |