Linked Data
ClinVar Variation Id:
342925
ClinVar RCV Id:
RCV000340976
dbSNP Id:
rs747117815
ExAC:
3:124449300 A / G
gnomAD v2:
3-124449300-A-G
gnomAD v4:
3-124730453-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.124730453A>G , CM000665.2:g.124730453A>G | GRCh38 |
| NC_000003.11:g.124449300A>G , CM000665.1:g.124449300A>G | GRCh37 |
| NC_000003.10:g.125931990A>G | NCBI36 |
| NG_017037.1:g.5088A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232607.7:c.-19A>G MANE Select | ENSP00000232607.2:n.-19A>G | |
| ENST00000232607.6:c.-19A>G | ENSP00000232607.2:n.-19A>G | |
| ENST00000460034.5:c.-19A>G | ENSP00000420409.1:n.-19A>G | |
| ENST00000462091.5:c.-19A>G | ENSP00000417893.1:n.-19A>G | |
| ENST00000467167.5:c.-19A>G | ENSP00000419618.1:n.-19A>G | |
| ENST00000474588.5:c.-19A>G | ENSP00000420348.1:n.-19A>G | |
| ENST00000479719.5:c.-19A>G | ENSP00000420754.1:n.-19A>G | |
| ENST00000497791.5:c.-19A>G | ENSP00000419121.1:n.-19A>G | |
| ENST00000628619.1:c.-19A>G | ENSP00000486143.1:n.-19A>G | |
| NM_000373.3:c.-19A>G | NP_000364.1:n.-19A>G | |
| NR_033434.1:n.88A>G | ||
| NR_033437.1:n.88A>G | ||
| XR_001740253.2:n.12A>G | ||
| NM_000373.4:c.-19A>G MANE Select | NP_000364.1:n.-19A>G | |
| NR_033434.2:n.2A>G | ||
| NR_033437.2:n.2A>G |