Linked Data
ClinVar Variation Id:
45843
dbSNP Id:
rs116666639
ExAC:
17:39912480 G / C
gnomAD v2:
17-39912480-G-C
gnomAD v3:
17-41756228-G-C
gnomAD v4:
17-41756228-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41756228G>C , CM000679.2:g.41756228G>C | GRCh38 |
| NC_000017.10:g.39912480G>C , CM000679.1:g.39912480G>C | GRCh37 |
| NC_000017.9:g.37166006G>C | NCBI36 |
| NG_009090.2:g.35485C>G , LRG_401:g.35485C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393931.8:c.2047-14C>G MANE Select | ENSP00000377508.3:n.2047-14C>G | |
| ENST00000310706.9:c.2047-14C>G | ENSP00000311113.5:n.2047-14C>G | |
| ENST00000393930.5:c.2047-14C>G | ENSP00000377507.1:n.2047-14C>G | |
| ENST00000393931.7:c.2047-14C>G | ENSP00000377508.3:n.2047-14C>G | |
| NM_002230.2:c.2047-14C>G , LRG_401t2:c.2047-14C>G | NP_002221.1:n.2047-14C>G | |
| NM_021991.2:c.2047-14C>G , LRG_401t1:c.2047-14C>G | NP_068831.1:n.2047-14C>G | |
| XM_006721873.1:c.2047-14C>G | XP_006721936.1:n.2047-14C>G | |
| XM_006721874.1:c.2047-14C>G | XP_006721937.1:n.2047-14C>G | |
| XM_006721875.1:c.2047-14C>G | XP_006721938.1:n.2047-14C>G | |
| XM_006721878.1:c.2047-14C>G | XP_006721941.1:n.2047-14C>G | |
| XM_011524753.1:c.2047-14C>G | XP_011523055.1:n.2047-14C>G | |
| XM_011524754.1:c.2047-14C>G | XP_011523056.1:n.2047-14C>G | |
| XM_011524755.1:c.2047-14C>G | XP_011523057.1:n.2047-14C>G | |
| XM_011524756.1:c.2047-14C>G | XP_011523058.1:n.2047-14C>G | |
| XM_011524757.1:c.2047-14C>G | XP_011523059.1:n.2047-14C>G | |
| XM_011524758.1:c.2047-14C>G | XP_011523060.1:n.2047-14C>G | |
| NM_001352773.1:c.2047-14C>G | NP_001339702.1:n.2047-14C>G | |
| NM_001352774.1:c.2047-14C>G | NP_001339703.1:n.2047-14C>G | |
| NM_001352775.1:c.2047-14C>G | NP_001339704.1:n.2047-14C>G | |
| NM_001352776.1:c.2047-14C>G | NP_001339705.1:n.2047-14C>G | |
| NM_001352777.1:c.2047-14C>G | NP_001339706.1:n.2047-14C>G | |
| NM_002230.3:c.2047-14C>G | NP_002221.1:n.2047-14C>G | |
| NM_021991.3:c.2047-14C>G | NP_068831.1:n.2047-14C>G | |
| XM_006721874.3:c.2047-14C>G | XP_006721937.1:n.2047-14C>G | |
| XM_011524753.2:c.2047-14C>G | XP_011523055.1:n.2047-14C>G | |
| XM_017024588.2:c.2098-14C>G | XP_016880077.1:n.2098-14C>G | |
| XM_017024590.1:c.2047-14C>G | XP_016880079.1:n.2047-14C>G | |
| NM_002230.4:c.2047-14C>G MANE Select | NP_002221.1:n.2047-14C>G | |
| NM_001352773.2:c.2047-14C>G | NP_001339702.1:n.2047-14C>G | |
| NM_001352774.2:c.2047-14C>G | NP_001339703.1:n.2047-14C>G | |
| NM_001352775.2:c.2047-14C>G | NP_001339704.1:n.2047-14C>G | |
| NM_001352776.2:c.2047-14C>G | NP_001339705.1:n.2047-14C>G | |
| NM_001352777.2:c.2047-14C>G | NP_001339706.1:n.2047-14C>G | |
| NM_021991.4:c.2047-14C>G | NP_068831.1:n.2047-14C>G |