Linked Data
dbSNP Id:
rs747936095
gnomAD v2:
6-31937124-A-G
gnomAD v3:
6-31969347-A-G
gnomAD v4:
6-31969347-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31969347A>G , CM000668.2:g.31969347A>G | GRCh38 |
| NC_000006.11:g.31937124A>G , CM000668.1:g.31937124A>G | GRCh37 |
| NC_000006.10:g.32045103A>G | NCBI36 |
| NG_032652.1:g.15544A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461073.6:c.*2421A>G | ENSP00000419905.1:n.*2421A>G | |
| ENST00000483553.6:c.*434A>G | ENSP00000420332.2:n.*434A>G | |
| ENST00000485349.6:n.3943A>G | ||
| ENST00000491994.2:c.3467A>G | ENSP00000417586.2:p.Gln1156Arg | |
| ENST00000494058.6:n.3769A>G | ||
| ENST00000697831.1:c.3398A>G | ENSP00000513453.1:p.Gln1133Arg | |
| ENST00000697832.1:n.3620A>G | ||
| ENST00000697833.1:c.*415A>G | ENSP00000513454.1:n.*415A>G | |
| ENST00000697834.1:n.4091A>G | ||
| ENST00000697835.1:c.*2985A>G | ENSP00000513455.1:n.*2985A>G | |
| ENST00000697836.1:n.3798A>G | ||
| ENST00000697837.1:c.*583A>G | ENSP00000513456.1:n.*583A>G | |
| ENST00000697838.1:c.3332A>G | ENSP00000513457.1:p.Gln1111Arg | |
| ENST00000697839.1:n.4185A>G | ||
| ENST00000697840.1:c.3503A>G | ENSP00000513458.1:p.Gln1168Arg | |
| ENST00000697841.1:n.4284A>G | ||
| ENST00000697842.1:n.3722A>G | ||
| ENST00000375394.7:c.3467A>G MANE Select | ENSP00000364543.2:p.Gln1156Arg | |
| ENST00000375394.6:c.3467A>G | ENSP00000364543.2:p.Gln1156Arg | |
| ENST00000465703.5:n.4103A>G | ||
| ENST00000470453.1:n.382+31A>G | ||
| ENST00000471818.1:n.396A>G | ||
| ENST00000474839.5:c.*2839A>G | ENSP00000420470.1:n.*2839A>G | |
| ENST00000483553.5:c.903A>G | ||
| ENST00000485349.5:n.673A>G | ||
| ENST00000491994.1:c.462A>G | ||
| NM_006929.4:c.3467A>G | NP_008860.4:p.Gln1156Arg | |
| XR_001743586.2:n.3566A>G | ||
| XR_926301.3:n.3483A>G | ||
| NM_006929.5:c.3467A>G MANE Select | NP_008860.4:p.Gln1156Arg |