Linked Data
ClinVar Variation Id:
214569
dbSNP Id:
rs144388953
ExAC:
5:145500084 A / C
gnomAD v2:
5-145500084-A-C
gnomAD v3:
5-146120521-A-C
gnomAD v4:
5-146120521-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146120521A>C , CM000667.2:g.146120521A>C | GRCh38 |
| NC_000005.9:g.145500084A>C , CM000667.1:g.145500084A>C | GRCh37 |
| NC_000005.8:g.145480277A>C | NCBI36 |
| NG_042294.1:g.67211T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394434.7:c.3193-18T>G MANE Select | ENSP00000377954.2:n.3193-18T>G | |
| ENST00000504323.6:n.3623-18T>G | ||
| ENST00000506231.6:n.6075-18T>G | ||
| ENST00000674158.1:c.2812-18T>G | ENSP00000501474.1:n.2812-18T>G | |
| ENST00000674170.1:c.*1631-18T>G | ENSP00000501381.1:n.*1631-18T>G | |
| ENST00000674174.1:c.3031-18T>G | ENSP00000501434.1:n.3031-18T>G | |
| ENST00000674181.1:c.1440-18T>G | ||
| ENST00000674191.1:c.2737-18T>G | ENSP00000501478.1:n.2737-18T>G | |
| ENST00000674218.1:n.5980-18T>G | ||
| ENST00000674270.1:c.3055-18T>G | ENSP00000501365.1:n.3055-18T>G | |
| ENST00000674277.1:c.3028-18T>G | ENSP00000501510.1:n.3028-18T>G | |
| ENST00000674290.1:c.3157-18T>G | ENSP00000501435.1:n.3157-18T>G | |
| ENST00000674309.1:c.*549-18T>G | ENSP00000501400.1:n.*549-18T>G | |
| ENST00000674310.1:c.3193-18T>G | ENSP00000501486.1:n.3193-18T>G | |
| ENST00000674383.1:n.5846-18T>G | ||
| ENST00000674398.1:c.3190-18T>G | ENSP00000501476.1:n.3190-18T>G | |
| ENST00000674447.1:c.3112-18T>G | ENSP00000501376.1:n.3112-18T>G | |
| ENST00000674467.1:c.*1115-18T>G | ENSP00000501351.1:n.*1115-18T>G | |
| ENST00000674471.1:n.3461-18T>G | ||
| ENST00000674479.1:n.4230-18T>G | ||
| ENST00000274562.13:c.1120-18T>G | ENSP00000274562.10:n.1120-18T>G | |
| ENST00000394434.6:c.3193-18T>G | ENSP00000377954.2:n.3193-18T>G | |
| ENST00000506231.5:n.3174-18T>G | ||
| ENST00000510191.5:c.3031-18T>G | ENSP00000426005.1:n.3031-18T>G | |
| NM_020117.9:c.3193-18T>G | NP_064502.9:n.3193-18T>G | |
| XM_011537655.1:c.3055-18T>G | XP_011535957.1:n.3055-18T>G | |
| XM_011537656.1:c.3031-18T>G | XP_011535958.1:n.3031-18T>G | |
| XM_011537657.1:c.2980-18T>G | XP_011535959.1:n.2980-18T>G | |
| NM_001317964.1:c.3055-18T>G | NP_001304893.1:n.3055-18T>G | |
| NM_001317965.1:c.3031-18T>G | NP_001304894.1:n.3031-18T>G | |
| NM_016460.3:c.3112-18T>G | NP_057544.2:n.3112-18T>G | |
| NM_020117.10:c.3193-18T>G | NP_064502.9:n.3193-18T>G | |
| XM_011537656.3:c.3031-18T>G | XP_011535958.1:n.3031-18T>G | |
| NM_020117.11:c.3193-18T>G MANE Select | NP_064502.9:n.3193-18T>G | |
| NM_001317964.2:c.3055-18T>G | NP_001304893.1:n.3055-18T>G | |
| NM_001317965.2:c.3031-18T>G | NP_001304894.1:n.3031-18T>G | |
| NM_016460.4:c.3112-18T>G | NP_057544.2:n.3112-18T>G |