Linked Data
dbSNP Id:
rs752706408
ExAC:
6:31937242 G / T
gnomAD v2:
6-31937242-G-T
gnomAD v4:
6-31969465-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31969465G>T , CM000668.2:g.31969465G>T | GRCh38 |
| NC_000006.11:g.31937242G>T , CM000668.1:g.31937242G>T | GRCh37 |
| NC_000006.10:g.32045221G>T | NCBI36 |
| NG_032652.1:g.15662G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461073.6:c.*2539G>T | ENSP00000419905.1:n.*2539G>T | |
| ENST00000483553.6:c.*552G>T | ENSP00000420332.2:n.*552G>T | |
| ENST00000485349.6:n.4016+45G>T | ||
| ENST00000491994.2:c.*33G>T | ENSP00000417586.2:n.*33G>T | |
| ENST00000494058.6:n.3842+45G>T | ||
| ENST00000697831.1:c.3471+45G>T | ENSP00000513453.1:n.3471+45G>T | |
| ENST00000697832.1:n.3693+45G>T | ||
| ENST00000697833.1:c.*488+45G>T | ENSP00000513454.1:n.*488+45G>T | |
| ENST00000697834.1:n.4209G>T | ||
| ENST00000697835.1:c.*3058+45G>T | ENSP00000513455.1:n.*3058+45G>T | |
| ENST00000697836.1:n.3872-27G>T | ||
| ENST00000697837.1:c.*656+45G>T | ENSP00000513456.1:n.*656+45G>T | |
| ENST00000697838.1:c.3405+45G>T | ENSP00000513457.1:n.3405+45G>T | |
| ENST00000697839.1:n.4303G>T | ||
| ENST00000697840.1:c.3576+45G>T | ENSP00000513458.1:n.3576+45G>T | |
| ENST00000697841.1:n.4402G>T | ||
| ENST00000697842.1:n.3795+45G>T | ||
| ENST00000375394.7:c.3540+45G>T MANE Select | ENSP00000364543.2:n.3540+45G>T | |
| ENST00000375394.6:c.3540+45G>T | ENSP00000364543.2:n.3540+45G>T | |
| ENST00000465703.5:n.4221G>T | ||
| ENST00000470453.1:n.383-50G>T | ||
| ENST00000471818.1:n.469+45G>T | ||
| ENST00000474839.5:c.*2912+45G>T | ENSP00000420470.1:n.*2912+45G>T | |
| ENST00000483553.5:c.1021G>T | ||
| ENST00000491994.1:c.580G>T | ||
| NM_006929.4:c.3540+45G>T | NP_008860.4:n.3540+45G>T | |
| XR_001743586.2:n.3684G>T | ||
| XR_926301.3:n.3556+45G>T | ||
| NM_006929.5:c.3540+45G>T MANE Select | NP_008860.4:n.3540+45G>T |