Linked Data
ClinVar Variation Id:
909720
ClinVar RCV Id:
RCV001160972
dbSNP Id:
rs374259737
ExAC:
7:65552710 C / G
gnomAD v2:
7-65552710-C-G
gnomAD v3:
7-66087723-C-G
gnomAD v4:
7-66087723-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66087723C>G , CM000669.2:g.66087723C>G | GRCh38 |
| NC_000007.13:g.65552710C>G , CM000669.1:g.65552710C>G | GRCh37 |
| NC_000007.12:g.65190145C>G | NCBI36 |
| NG_009288.1:g.16935C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304874.14:c.656-6C>G MANE Select | ENSP00000307188.9:n.656-6C>G | |
| ENST00000362000.10:c.461-6C>G | ENSP00000354710.6:n.461-6C>G | |
| ENST00000380839.9:c.578-6C>G | ENSP00000370219.4:n.578-6C>G | |
| ENST00000395331.4:c.656-6C>G | ENSP00000378740.3:n.656-6C>G | |
| ENST00000395332.8:c.656-6C>G | ENSP00000378741.3:n.656-6C>G | |
| ENST00000671817.1:c.578-6C>G | ENSP00000500462.1:n.578-6C>G | |
| ENST00000672498.1:c.447-6C>G | ENSP00000500227.1:n.447-6C>G | |
| ENST00000672586.1:n.1409C>G | ||
| ENST00000672676.1:n.1674C>G | ||
| ENST00000673149.1:n.468-6C>G | ||
| ENST00000673350.1:n.1752C>G | ||
| ENST00000673518.1:c.578-6C>G | ENSP00000499889.1:n.578-6C>G | |
| ENST00000304874.13:c.656-6C>G | ENSP00000307188.9:n.656-6C>G | |
| ENST00000362000.9:c.461-6C>G | ENSP00000354710.5:n.461-6C>G | |
| ENST00000380839.8:c.578-6C>G | ENSP00000370219.4:n.578-6C>G | |
| ENST00000395331.3:c.656-6C>G | ENSP00000378740.3:n.656-6C>G | |
| ENST00000395332.7:c.656-6C>G | ENSP00000378741.3:n.656-6C>G | |
| ENST00000493708.5:n.31C>G | ||
| NM_000048.3:c.656-6C>G | NP_000039.2:n.656-6C>G | |
| NM_001024943.1:c.656-6C>G | NP_001020114.1:n.656-6C>G | |
| NM_001024944.1:c.656-6C>G | NP_001020115.1:n.656-6C>G | |
| NM_001024946.1:c.578-6C>G | NP_001020117.1:n.578-6C>G | |
| NM_000048.4:c.656-6C>G MANE Select | NP_000039.2:n.656-6C>G | |
| NM_001024943.2:c.656-6C>G | NP_001020114.1:n.656-6C>G | |
| NM_001024944.2:c.656-6C>G | NP_001020115.1:n.656-6C>G | |
| NM_001024946.2:c.578-6C>G | NP_001020117.1:n.578-6C>G |