Linked Data
ClinVar Variation Id:
1645831
ClinVar RCV Id:
RCV002148722
dbSNP Id:
rs201662520
ExAC:
6:31937216 G / A
gnomAD v2:
6-31937216-G-A
gnomAD v3:
6-31969439-G-A
gnomAD v4:
6-31969439-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31969439G>A , CM000668.2:g.31969439G>A | GRCh38 |
| NC_000006.11:g.31937216G>A , CM000668.1:g.31937216G>A | GRCh37 |
| NC_000006.10:g.32045195G>A | NCBI36 |
| NG_032652.1:g.15636G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461073.6:c.*2513G>A | ENSP00000419905.1:n.*2513G>A | |
| ENST00000483553.6:c.*526G>A | ENSP00000420332.2:n.*526G>A | |
| ENST00000485349.6:n.4016+19G>A | ||
| ENST00000491994.2:c.*7G>A | ENSP00000417586.2:n.*7G>A | |
| ENST00000494058.6:n.3842+19G>A | ||
| ENST00000697831.1:c.3471+19G>A | ENSP00000513453.1:n.3471+19G>A | |
| ENST00000697832.1:n.3693+19G>A | ||
| ENST00000697833.1:c.*488+19G>A | ENSP00000513454.1:n.*488+19G>A | |
| ENST00000697834.1:n.4183G>A | ||
| ENST00000697835.1:c.*3058+19G>A | ENSP00000513455.1:n.*3058+19G>A | |
| ENST00000697836.1:n.3871+19G>A | ||
| ENST00000697837.1:c.*656+19G>A | ENSP00000513456.1:n.*656+19G>A | |
| ENST00000697838.1:c.3405+19G>A | ENSP00000513457.1:n.3405+19G>A | |
| ENST00000697839.1:n.4277G>A | ||
| ENST00000697840.1:c.3576+19G>A | ENSP00000513458.1:n.3576+19G>A | |
| ENST00000697841.1:n.4376G>A | ||
| ENST00000697842.1:n.3795+19G>A | ||
| ENST00000375394.7:c.3540+19G>A MANE Select | ENSP00000364543.2:n.3540+19G>A | |
| ENST00000375394.6:c.3540+19G>A | ENSP00000364543.2:n.3540+19G>A | |
| ENST00000465703.5:n.4195G>A | ||
| ENST00000470453.1:n.383-76G>A | ||
| ENST00000471818.1:n.469+19G>A | ||
| ENST00000474839.5:c.*2912+19G>A | ENSP00000420470.1:n.*2912+19G>A | |
| ENST00000483553.5:c.995G>A | ||
| ENST00000491994.1:c.554G>A | ||
| NM_006929.4:c.3540+19G>A | NP_008860.4:n.3540+19G>A | |
| XR_001743586.2:n.3658G>A | ||
| XR_926301.3:n.3556+19G>A | ||
| NM_006929.5:c.3540+19G>A MANE Select | NP_008860.4:n.3540+19G>A |