Linked Data
ClinVar Variation Id:
356352
dbSNP Id:
rs767834988
ExAC:
6:31937204 A / G
gnomAD v2:
6-31937204-A-G
gnomAD v4:
6-31969427-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31969427A>G , CM000668.2:g.31969427A>G | GRCh38 |
| NC_000006.11:g.31937204A>G , CM000668.1:g.31937204A>G | GRCh37 |
| NC_000006.10:g.32045183A>G | NCBI36 |
| NG_032652.1:g.15624A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461073.6:c.*2501A>G | ENSP00000419905.1:n.*2501A>G | |
| ENST00000483553.6:c.*514A>G | ENSP00000420332.2:n.*514A>G | |
| ENST00000485349.6:n.4016+7A>G | ||
| ENST00000491994.2:c.3547A>G | ENSP00000417586.2:p.Thr1183Ala | |
| ENST00000494058.6:n.3842+7A>G | ||
| ENST00000697831.1:c.3471+7A>G | ENSP00000513453.1:n.3471+7A>G | |
| ENST00000697832.1:n.3693+7A>G | ||
| ENST00000697833.1:c.*488+7A>G | ENSP00000513454.1:n.*488+7A>G | |
| ENST00000697834.1:n.4171A>G | ||
| ENST00000697835.1:c.*3058+7A>G | ENSP00000513455.1:n.*3058+7A>G | |
| ENST00000697836.1:n.3871+7A>G | ||
| ENST00000697837.1:c.*656+7A>G | ENSP00000513456.1:n.*656+7A>G | |
| ENST00000697838.1:c.3405+7A>G | ENSP00000513457.1:n.3405+7A>G | |
| ENST00000697839.1:n.4265A>G | ||
| ENST00000697840.1:c.3576+7A>G | ENSP00000513458.1:n.3576+7A>G | |
| ENST00000697841.1:n.4364A>G | ||
| ENST00000697842.1:n.3795+7A>G | ||
| ENST00000375394.7:c.3540+7A>G MANE Select | ENSP00000364543.2:n.3540+7A>G | |
| ENST00000375394.6:c.3540+7A>G | ENSP00000364543.2:n.3540+7A>G | |
| ENST00000465703.5:n.4183A>G | ||
| ENST00000470453.1:n.383-88A>G | ||
| ENST00000471818.1:n.469+7A>G | ||
| ENST00000474839.5:c.*2912+7A>G | ENSP00000420470.1:n.*2912+7A>G | |
| ENST00000483553.5:c.983A>G | ||
| ENST00000491994.1:c.542A>G | ||
| NM_006929.4:c.3540+7A>G | NP_008860.4:n.3540+7A>G | |
| XR_001743586.2:n.3646A>G | ||
| XR_926301.3:n.3556+7A>G | ||
| NM_006929.5:c.3540+7A>G MANE Select | NP_008860.4:n.3540+7A>G |