Linked Data
ClinVar Variation Id:
323172
dbSNP Id:
rs782699765
ExAC:
17:39925471 A / G
gnomAD v2:
17-39925471-A-G
gnomAD v4:
17-41769219-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41769219A>G , CM000679.2:g.41769219A>G | GRCh38 |
| NC_000017.10:g.39925471A>G , CM000679.1:g.39925471A>G | GRCh37 |
| NC_000017.9:g.37178997A>G | NCBI36 |
| NG_009090.2:g.22494T>C , LRG_401:g.22494T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393931.8:c.469-12T>C MANE Select | ENSP00000377508.3:n.469-12T>C | |
| ENST00000310706.9:c.469-12T>C | ENSP00000311113.5:n.469-12T>C | |
| ENST00000393930.5:c.469-12T>C | ENSP00000377507.1:n.469-12T>C | |
| ENST00000393931.7:c.469-12T>C | ENSP00000377508.3:n.469-12T>C | |
| ENST00000420370.5:c.469-12T>C | ENSP00000411449.1:n.469-12T>C | |
| ENST00000424457.5:c.469-12T>C | ENSP00000401034.1:n.469-12T>C | |
| ENST00000437187.5:c.469-12T>C | ENSP00000394146.1:n.469-12T>C | |
| ENST00000449889.5:c.469-12T>C | ENSP00000389886.1:n.469-12T>C | |
| NM_002230.2:c.469-12T>C , LRG_401t2:c.469-12T>C | NP_002221.1:n.469-12T>C | |
| NM_021991.2:c.469-12T>C , LRG_401t1:c.469-12T>C | NP_068831.1:n.469-12T>C | |
| XM_006721873.1:c.469-12T>C | XP_006721936.1:n.469-12T>C | |
| XM_006721874.1:c.469-12T>C | XP_006721937.1:n.469-12T>C | |
| XM_006721875.1:c.469-12T>C | XP_006721938.1:n.469-12T>C | |
| XM_006721878.1:c.469-12T>C | XP_006721941.1:n.469-12T>C | |
| XM_011524753.1:c.469-12T>C | XP_011523055.1:n.469-12T>C | |
| XM_011524754.1:c.469-12T>C | XP_011523056.1:n.469-12T>C | |
| XM_011524755.1:c.469-12T>C | XP_011523057.1:n.469-12T>C | |
| XM_011524756.1:c.469-12T>C | XP_011523058.1:n.469-12T>C | |
| XM_011524757.1:c.469-12T>C | XP_011523059.1:n.469-12T>C | |
| XM_011524758.1:c.469-12T>C | XP_011523060.1:n.469-12T>C | |
| NM_001352773.1:c.469-12T>C | NP_001339702.1:n.469-12T>C | |
| NM_001352774.1:c.469-12T>C | NP_001339703.1:n.469-12T>C | |
| NM_001352775.1:c.469-12T>C | NP_001339704.1:n.469-12T>C | |
| NM_001352776.1:c.469-12T>C | NP_001339705.1:n.469-12T>C | |
| NM_001352777.1:c.469-12T>C | NP_001339706.1:n.469-12T>C | |
| NM_002230.3:c.469-12T>C | NP_002221.1:n.469-12T>C | |
| NM_021991.3:c.469-12T>C | NP_068831.1:n.469-12T>C | |
| XM_006721874.3:c.469-12T>C | XP_006721937.1:n.469-12T>C | |
| XM_011524753.2:c.469-12T>C | XP_011523055.1:n.469-12T>C | |
| XM_017024588.2:c.520-12T>C | XP_016880077.1:n.520-12T>C | |
| XM_017024590.1:c.469-12T>C | XP_016880079.1:n.469-12T>C | |
| NM_002230.4:c.469-12T>C MANE Select | NP_002221.1:n.469-12T>C | |
| NM_001352773.2:c.469-12T>C | NP_001339702.1:n.469-12T>C | |
| NM_001352774.2:c.469-12T>C | NP_001339703.1:n.469-12T>C | |
| NM_001352775.2:c.469-12T>C | NP_001339704.1:n.469-12T>C | |
| NM_001352776.2:c.469-12T>C | NP_001339705.1:n.469-12T>C | |
| NM_001352777.2:c.469-12T>C | NP_001339706.1:n.469-12T>C | |
| NM_021991.4:c.469-12T>C | NP_068831.1:n.469-12T>C |