Linked Data
ClinVar Variation Id:
356326
ClinVar RCV Id:
RCV001512359
dbSNP Id:
rs2734331
ExAC:
6:31930351 A / G
gnomAD v2:
6-31930351-A-G
gnomAD v3:
6-31962574-A-G
gnomAD v4:
6-31962574-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31962574A>G , CM000668.2:g.31962574A>G | GRCh38 |
| NC_000006.11:g.31930351A>G , CM000668.1:g.31930351A>G | GRCh37 |
| NC_000006.10:g.32038330A>G | NCBI36 |
| NG_032652.1:g.8771A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461073.6:c.*316A>G | ENSP00000419905.1:n.*316A>G | |
| ENST00000483553.6:c.1200A>G | ENSP00000420332.2:p.Thr400= | |
| ENST00000485349.6:n.1241A>G | ||
| ENST00000491994.2:c.1200A>G | ENSP00000417586.2:p.Thr400= | |
| ENST00000494058.6:n.1257A>G | ||
| ENST00000697831.1:c.1200A>G | ENSP00000513453.1:p.Thr400= | |
| ENST00000697832.1:n.1276A>G | ||
| ENST00000697833.1:c.1200A>G | ENSP00000513454.1:p.Thr400= | |
| ENST00000697834.1:n.1252A>G | ||
| ENST00000697835.1:c.*718A>G | ENSP00000513455.1:n.*718A>G | |
| ENST00000697836.1:n.1236A>G | ||
| ENST00000697837.1:c.1200A>G | ENSP00000513456.1:p.Thr400= | |
| ENST00000697838.1:c.1065A>G | ENSP00000513457.1:p.Thr355= | |
| ENST00000697839.1:n.1483A>G | ||
| ENST00000697840.1:c.1236A>G | ENSP00000513458.1:p.Thr412= | |
| ENST00000697841.1:n.1772A>G | ||
| ENST00000697842.1:n.1200A>G | ||
| ENST00000375394.7:c.1200A>G MANE Select | ENSP00000364543.2:p.Thr400= | |
| ENST00000375394.6:c.1200A>G | ENSP00000364543.2:p.Thr400= | |
| ENST00000461073.5:c.*316A>G | ENSP00000419905.1:n.*316A>G | |
| ENST00000465703.5:n.1513A>G | ||
| ENST00000466290.1:n.461A>G | ||
| ENST00000474839.5:c.*572A>G | ENSP00000420470.1:n.*572A>G | |
| NM_006929.4:c.1200A>G | NP_008860.4:p.Thr400= | |
| XM_006715168.2:c.1200A>G | XP_006715231.1:p.Thr400= | |
| XM_011514815.1:c.1200A>G | XP_011513117.1:p.Thr400= | |
| XR_926301.1:n.1288A>G | ||
| XM_011514815.3:c.1200A>G | XP_011513117.1:p.Thr400= | |
| XR_001743586.2:n.1236A>G | ||
| XR_926301.3:n.1236A>G | ||
| NM_006929.5:c.1200A>G MANE Select | NP_008860.4:p.Thr400= |