Linked Data
ClinVar Variation Id:
1949281
ClinVar RCV Id:
RCV002659416
dbSNP Id:
rs748398698
ExAC:
7:65554170 A / G
gnomAD v2:
7-65554170-A-G
gnomAD v3:
7-66089183-A-G
gnomAD v4:
7-66089183-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66089183A>G , CM000669.2:g.66089183A>G | GRCh38 |
| NC_000007.13:g.65554170A>G , CM000669.1:g.65554170A>G | GRCh37 |
| NC_000007.12:g.65191605A>G | NCBI36 |
| NG_009288.1:g.18395A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304874.14:c.918+8A>G MANE Select | ENSP00000307188.9:n.918+8A>G | |
| ENST00000362000.10:c.723+8A>G | ENSP00000354710.6:n.723+8A>G | |
| ENST00000380839.9:c.840+8A>G | ENSP00000370219.4:n.840+8A>G | |
| ENST00000395331.4:c.918+8A>G | ENSP00000378740.3:n.918+8A>G | |
| ENST00000395332.8:c.918+8A>G | ENSP00000378741.3:n.918+8A>G | |
| ENST00000488343.2:c.87+8A>G | ENSP00000500864.1:n.87+8A>G | |
| ENST00000671817.1:c.840+8A>G | ENSP00000500462.1:n.840+8A>G | |
| ENST00000672498.1:c.*217+8A>G | ENSP00000500227.1:n.*217+8A>G | |
| ENST00000672586.1:n.1677+8A>G | ||
| ENST00000672676.1:n.1942+8A>G | ||
| ENST00000673149.1:n.730+8A>G | ||
| ENST00000673350.1:n.3035+8A>G | ||
| ENST00000673518.1:c.840+8A>G | ENSP00000499889.1:n.840+8A>G | |
| ENST00000304874.13:c.918+8A>G | ENSP00000307188.9:n.918+8A>G | |
| ENST00000380839.8:c.840+8A>G | ENSP00000370219.4:n.840+8A>G | |
| ENST00000395331.3:c.918+8A>G | ENSP00000378740.3:n.918+8A>G | |
| ENST00000395332.7:c.918+8A>G | ENSP00000378741.3:n.918+8A>G | |
| ENST00000450043.2:c.231+8A>G | ENSP00000396527.2:n.231+8A>G | |
| ENST00000488343.1:n.87+8A>G | ||
| ENST00000493708.5:n.307A>G | ||
| NM_000048.3:c.918+8A>G | NP_000039.2:n.918+8A>G | |
| NM_001024943.1:c.918+8A>G | NP_001020114.1:n.918+8A>G | |
| NM_001024944.1:c.918+8A>G | NP_001020115.1:n.918+8A>G | |
| NM_001024946.1:c.840+8A>G | NP_001020117.1:n.840+8A>G | |
| NM_000048.4:c.918+8A>G MANE Select | NP_000039.2:n.918+8A>G | |
| NM_001024943.2:c.918+8A>G | NP_001020114.1:n.918+8A>G | |
| NM_001024944.2:c.918+8A>G | NP_001020115.1:n.918+8A>G | |
| NM_001024946.2:c.840+8A>G | NP_001020117.1:n.840+8A>G |