Linked Data
ClinVar Variation Id:
323173
dbSNP Id:
rs886052920
gnomAD v2:
17-39942882-G-C
gnomAD v3:
17-41786630-G-C
gnomAD v4:
17-41786630-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41786630G>C , CM000679.2:g.41786630G>C | GRCh38 |
| NC_000017.10:g.39942882G>C , CM000679.1:g.39942882G>C | GRCh37 |
| NC_000017.9:g.37196408G>C | NCBI36 |
| NG_009090.2:g.5083C>G , LRG_401:g.5083C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393931.8:c.-51C>G MANE Select | ENSP00000377508.3:n.-51C>G | |
| ENST00000310706.9:c.-51C>G | ENSP00000311113.5:n.-51C>G | |
| ENST00000393931.7:c.-51C>G | ENSP00000377508.3:n.-51C>G | |
| ENST00000424457.5:c.-160C>G | ENSP00000401034.1:n.-160C>G | |
| ENST00000437187.5:c.-9+168C>G | ENSP00000394146.1:n.-9+168C>G | |
| ENST00000589036.1:n.81C>G | ||
| ENST00000591690.5:c.-136C>G | ENSP00000468347.1:n.-136C>G | |
| NM_002230.2:c.-51C>G , LRG_401t2:c.-51C>G | NP_002221.1:n.-51C>G | |
| NM_021991.2:c.-51C>G , LRG_401t1:c.-51C>G | NP_068831.1:n.-51C>G | |
| XM_006721873.1:c.-160C>G | XP_006721936.1:n.-160C>G | |
| XM_006721874.1:c.-73C>G | XP_006721937.1:n.-73C>G | |
| XM_006721875.1:c.-136C>G | XP_006721938.1:n.-136C>G | |
| XM_011524755.1:c.-48C>G | XP_011523057.1:n.-48C>G | |
| NM_001352773.1:c.-73C>G | NP_001339702.1:n.-73C>G | |
| NM_001352774.1:c.-48C>G | NP_001339703.1:n.-48C>G | |
| NM_001352775.1:c.-70C>G | NP_001339704.1:n.-70C>G | |
| NM_001352776.1:c.-160C>G | NP_001339705.1:n.-160C>G | |
| NM_002230.3:c.-51C>G | NP_002221.1:n.-51C>G | |
| NM_021991.3:c.-51C>G | NP_068831.1:n.-51C>G | |
| XM_006721874.3:c.-73C>G | XP_006721937.1:n.-73C>G | |
| NM_002230.4:c.-51C>G MANE Select | NP_002221.1:n.-51C>G | |
| NM_001352773.2:c.-73C>G | NP_001339702.1:n.-73C>G | |
| NM_001352774.2:c.-48C>G | NP_001339703.1:n.-48C>G | |
| NM_001352775.2:c.-70C>G | NP_001339704.1:n.-70C>G | |
| NM_001352776.2:c.-160C>G | NP_001339705.1:n.-160C>G | |
| NM_021991.4:c.-51C>G | NP_068831.1:n.-51C>G |