Linked Data
ClinVar Variation Id:
1066292
ClinVar RCV Id:
RCV001377255
dbSNP Id:
rs762751779
ExAC:
6:31937290 A / G
gnomAD v2:
6-31937290-A-G
gnomAD v3:
6-31969513-A-G
gnomAD v4:
6-31969513-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31969513A>G , CM000668.2:g.31969513A>G | GRCh38 |
| NC_000006.11:g.31937290A>G , CM000668.1:g.31937290A>G | GRCh37 |
| NC_000006.10:g.32045269A>G | NCBI36 |
| NG_032652.1:g.15710A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461073.6:c.*2587A>G | ENSP00000419905.1:n.*2587A>G | |
| ENST00000485349.6:n.4017-2A>G | ||
| ENST00000491994.2:c.*81A>G | ENSP00000417586.2:n.*81A>G | |
| ENST00000494058.6:n.3843-2A>G | ||
| ENST00000697831.1:c.3472-2A>G | ENSP00000513453.1:n.3472-2A>G | |
| ENST00000697832.1:n.3694-2A>G | ||
| ENST00000697833.1:c.*489-2A>G | ENSP00000513454.1:n.*489-2A>G | |
| ENST00000697834.1:n.4257A>G | ||
| ENST00000697835.1:c.*3059-2A>G | ENSP00000513455.1:n.*3059-2A>G | |
| ENST00000697836.1:n.3893A>G | ||
| ENST00000697837.1:c.*657-2A>G | ENSP00000513456.1:n.*657-2A>G | |
| ENST00000697838.1:c.3406-2A>G | ENSP00000513457.1:n.3406-2A>G | |
| ENST00000697839.1:n.4351A>G | ||
| ENST00000697840.1:c.3577-2A>G | ENSP00000513458.1:n.3577-2A>G | |
| ENST00000697841.1:n.4450A>G | ||
| ENST00000697842.1:n.3796-2A>G | ||
| ENST00000375394.7:c.3541-2A>G MANE Select | ENSP00000364543.2:n.3541-2A>G | |
| ENST00000375394.6:c.3541-2A>G | ENSP00000364543.2:n.3541-2A>G | |
| ENST00000465703.5:n.4269A>G | ||
| ENST00000470453.1:n.383-2A>G | ||
| ENST00000471818.1:n.470-2A>G | ||
| ENST00000474839.5:c.*2913-2A>G | ENSP00000420470.1:n.*2913-2A>G | |
| ENST00000483553.5:c.1069A>G | ||
| ENST00000491994.1:c.628A>G | ||
| NM_006929.4:c.3541-2A>G | NP_008860.4:n.3541-2A>G | |
| XR_926301.3:n.3557-2A>G | ||
| NM_006929.5:c.3541-2A>G MANE Select | NP_008860.4:n.3541-2A>G |