Linked Data
dbSNP Id:
rs745412456
ExAC:
6:31937267 A / G
gnomAD v2:
6-31937267-A-G
gnomAD v4:
6-31969490-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31969490A>G , CM000668.2:g.31969490A>G | GRCh38 |
| NC_000006.11:g.31937267A>G , CM000668.1:g.31937267A>G | GRCh37 |
| NC_000006.10:g.32045246A>G | NCBI36 |
| NG_032652.1:g.15687A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461073.6:c.*2564A>G | ENSP00000419905.1:n.*2564A>G | |
| ENST00000483553.6:c.*577A>G | ENSP00000420332.2:n.*577A>G | |
| ENST00000485349.6:n.4017-25A>G | ||
| ENST00000491994.2:c.*58A>G | ENSP00000417586.2:n.*58A>G | |
| ENST00000494058.6:n.3843-25A>G | ||
| ENST00000697831.1:c.3472-25A>G | ENSP00000513453.1:n.3472-25A>G | |
| ENST00000697832.1:n.3694-25A>G | ||
| ENST00000697833.1:c.*489-25A>G | ENSP00000513454.1:n.*489-25A>G | |
| ENST00000697834.1:n.4234A>G | ||
| ENST00000697835.1:c.*3059-25A>G | ENSP00000513455.1:n.*3059-25A>G | |
| ENST00000697836.1:n.3872-2A>G | ||
| ENST00000697837.1:c.*657-25A>G | ENSP00000513456.1:n.*657-25A>G | |
| ENST00000697838.1:c.3406-25A>G | ENSP00000513457.1:n.3406-25A>G | |
| ENST00000697839.1:n.4328A>G | ||
| ENST00000697840.1:c.3577-25A>G | ENSP00000513458.1:n.3577-25A>G | |
| ENST00000697841.1:n.4427A>G | ||
| ENST00000697842.1:n.3796-25A>G | ||
| ENST00000375394.7:c.3541-25A>G MANE Select | ENSP00000364543.2:n.3541-25A>G | |
| ENST00000375394.6:c.3541-25A>G | ENSP00000364543.2:n.3541-25A>G | |
| ENST00000465703.5:n.4246A>G | ||
| ENST00000470453.1:n.383-25A>G | ||
| ENST00000471818.1:n.470-25A>G | ||
| ENST00000474839.5:c.*2913-25A>G | ENSP00000420470.1:n.*2913-25A>G | |
| ENST00000483553.5:c.1046A>G | ||
| ENST00000491994.1:c.605A>G | ||
| NM_006929.4:c.3541-25A>G | NP_008860.4:n.3541-25A>G | |
| XR_001743586.2:n.3709A>G | ||
| XR_926301.3:n.3557-25A>G | ||
| NM_006929.5:c.3541-25A>G MANE Select | NP_008860.4:n.3541-25A>G |