Linked Data
dbSNP Id:
rs368151732
ExAC:
6:31937228 C / T
gnomAD v2:
6-31937228-C-T
gnomAD v3:
6-31969451-C-T
gnomAD v4:
6-31969451-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31969451C>T , CM000668.2:g.31969451C>T | GRCh38 |
| NC_000006.11:g.31937228C>T , CM000668.1:g.31937228C>T | GRCh37 |
| NC_000006.10:g.32045207C>T | NCBI36 |
| NG_032652.1:g.15648C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461073.6:c.*2525C>T | ENSP00000419905.1:n.*2525C>T | |
| ENST00000483553.6:c.*538C>T | ENSP00000420332.2:n.*538C>T | |
| ENST00000485349.6:n.4016+31C>T | ||
| ENST00000491994.2:c.*19C>T | ENSP00000417586.2:n.*19C>T | |
| ENST00000494058.6:n.3842+31C>T | ||
| ENST00000697831.1:c.3471+31C>T | ENSP00000513453.1:n.3471+31C>T | |
| ENST00000697832.1:n.3693+31C>T | ||
| ENST00000697833.1:c.*488+31C>T | ENSP00000513454.1:n.*488+31C>T | |
| ENST00000697834.1:n.4195C>T | ||
| ENST00000697835.1:c.*3058+31C>T | ENSP00000513455.1:n.*3058+31C>T | |
| ENST00000697836.1:n.3871+31C>T | ||
| ENST00000697837.1:c.*656+31C>T | ENSP00000513456.1:n.*656+31C>T | |
| ENST00000697838.1:c.3405+31C>T | ENSP00000513457.1:n.3405+31C>T | |
| ENST00000697839.1:n.4289C>T | ||
| ENST00000697840.1:c.3576+31C>T | ENSP00000513458.1:n.3576+31C>T | |
| ENST00000697841.1:n.4388C>T | ||
| ENST00000697842.1:n.3795+31C>T | ||
| ENST00000375394.7:c.3540+31C>T MANE Select | ENSP00000364543.2:n.3540+31C>T | |
| ENST00000375394.6:c.3540+31C>T | ENSP00000364543.2:n.3540+31C>T | |
| ENST00000465703.5:n.4207C>T | ||
| ENST00000470453.1:n.383-64C>T | ||
| ENST00000471818.1:n.469+31C>T | ||
| ENST00000474839.5:c.*2912+31C>T | ENSP00000420470.1:n.*2912+31C>T | |
| ENST00000483553.5:c.1007C>T | ||
| ENST00000491994.1:c.566C>T | ||
| NM_006929.4:c.3540+31C>T | NP_008860.4:n.3540+31C>T | |
| XR_001743586.2:n.3670C>T | ||
| XR_926301.3:n.3556+31C>T | ||
| NM_006929.5:c.3540+31C>T MANE Select | NP_008860.4:n.3540+31C>T |