Linked Data
dbSNP Id:
rs1415859198
gnomAD v2:
6-31937442-A-G
gnomAD v3:
6-31969665-A-G
gnomAD v4:
6-31969665-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31969665A>G , CM000668.2:g.31969665A>G | GRCh38 |
| NC_000006.11:g.31937442A>G , CM000668.1:g.31937442A>G | GRCh37 |
| NC_000006.10:g.32045421A>G | NCBI36 |
| NG_032652.1:g.15862A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461073.6:c.*2739A>G | ENSP00000419905.1:n.*2739A>G | |
| ENST00000485349.6:n.4167A>G | ||
| ENST00000491994.2:c.*233A>G | ENSP00000417586.2:n.*233A>G | |
| ENST00000494058.6:n.3993A>G | ||
| ENST00000697831.1:c.3622A>G | ENSP00000513453.1:p.Thr1208Ala | |
| ENST00000697832.1:n.3844A>G | ||
| ENST00000697834.1:n.4409A>G | ||
| ENST00000697835.1:c.*3209A>G | ENSP00000513455.1:n.*3209A>G | |
| ENST00000697836.1:n.4045A>G | ||
| ENST00000697837.1:c.*807A>G | ENSP00000513456.1:n.*807A>G | |
| ENST00000697838.1:c.3556A>G | ENSP00000513457.1:p.Thr1186Ala | |
| ENST00000697839.1:n.4503A>G | ||
| ENST00000697840.1:c.3727A>G | ENSP00000513458.1:p.Thr1243Ala | |
| ENST00000697841.1:n.4602A>G | ||
| ENST00000697842.1:n.3946A>G | ||
| ENST00000375394.7:c.3691A>G MANE Select | ENSP00000364543.2:p.Thr1231Ala | |
| ENST00000375394.6:c.3691A>G | ENSP00000364543.2:p.Thr1231Ala | |
| ENST00000465703.5:n.4421A>G | ||
| ENST00000471818.1:n.620A>G | ||
| ENST00000474839.5:c.*3063A>G | ENSP00000420470.1:n.*3063A>G | |
| ENST00000483553.5:c.1221A>G | ||
| ENST00000491994.1:c.780A>G | ||
| NM_006929.4:c.3691A>G | NP_008860.4:p.Thr1231Ala | |
| XR_926301.3:n.3707A>G | ||
| NM_006929.5:c.3691A>G MANE Select | NP_008860.4:p.Thr1231Ala |