Linked Data
ClinVar Variation Id:
2047703
ClinVar RCV Id:
RCV002926921
dbSNP Id:
rs565129019
ExAC:
22:30074165 C / G
gnomAD v2:
22-30074165-C-G
gnomAD v3:
22-29678176-C-G
gnomAD v4:
22-29678176-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29678176C>G , CM000684.2:g.29678176C>G | GRCh38 |
| NC_000022.10:g.30074165C>G , CM000684.1:g.30074165C>G | GRCh37 |
| NC_000022.9:g.28404165C>G | NCBI36 |
| NG_009057.1:g.79621C>G , LRG_511:g.79621C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361166.10:c.1312-20C>G | ENSP00000354529.6:n.1312-20C>G | |
| ENST00000673312.2:c.*941-20C>G | ENSP00000500186.2:n.*941-20C>G | |
| ENST00000338641.10:c.1447-20C>G MANE Select | ENSP00000344666.5:n.1447-20C>G | |
| ENST00000361166.9:c.865-20C>G | ENSP00000354529.5:n.865-20C>G | |
| ENST00000672461.1:c.1447-20C>G | ENSP00000500919.1:n.1447-20C>G | |
| ENST00000672805.1:c.*1329-20C>G | ENSP00000500295.1:n.*1329-20C>G | |
| ENST00000672896.1:c.1447-20C>G | ENSP00000500117.1:n.1447-20C>G | |
| ENST00000673312.1:c.1466-20C>G | ENSP00000500186.1:n.1466-20C>G | |
| ENST00000334961.11:c.1198-20C>G | ENSP00000335652.7:n.1198-20C>G | |
| ENST00000338641.8:c.1447-20C>G | ENSP00000344666.4:n.1447-20C>G | |
| ENST00000353887.8:c.1198-20C>G | ENSP00000340626.4:n.1198-20C>G | |
| ENST00000361166.8:c.1447-20C>G | ENSP00000354529.4:n.1447-20C>G | |
| ENST00000361452.8:c.1324-20C>G | ENSP00000354897.4:n.1324-20C>G | |
| ENST00000361676.8:c.1321-20C>G | ENSP00000355183.4:n.1321-20C>G | |
| ENST00000397789.3:c.1447-20C>G | ENSP00000380891.3:n.1447-20C>G | |
| ENST00000403435.5:c.1360-20C>G | ENSP00000384029.1:n.1360-20C>G | |
| ENST00000403999.7:c.1447-20C>G | ENSP00000384797.3:n.1447-20C>G | |
| ENST00000413209.6:c.448-16576C>G | ENSP00000409921.2:n.448-16576C>G | |
| ENST00000432151.5:c.629-20C>G | ENSP00000395885.1:n.629-20C>G | |
| NM_000268.3:c.1447-20C>G , LRG_511t1:c.1447-20C>G | NP_000259.1:n.1447-20C>G | |
| NM_016418.5:c.1447-20C>G , LRG_511t2:c.1447-20C>G | NP_057502.2:n.1447-20C>G | |
| NM_181825.2:c.1447-20C>G | NP_861546.1:n.1447-20C>G | |
| NM_181828.2:c.1321-20C>G | NP_861966.1:n.1321-20C>G | |
| NM_181829.2:c.1324-20C>G | NP_861967.1:n.1324-20C>G | |
| NM_181830.2:c.1198-20C>G | NP_861968.1:n.1198-20C>G | |
| NM_181831.2:c.1198-20C>G | NP_861969.1:n.1198-20C>G | |
| NM_181832.2:c.1447-20C>G | NP_861970.1:n.1447-20C>G | |
| NM_181833.2:c.448-16576C>G | NP_861971.1:n.448-16576C>G | |
| NR_156186.1:n.2006-20C>G | ||
| XM_017028809.2:c.1333-20C>G | XP_016884298.1:n.1333-20C>G | |
| XM_017028810.1:c.1333-20C>G | XP_016884299.1:n.1333-20C>G | |
| NM_000268.4:c.1447-20C>G MANE Select | NP_000259.1:n.1447-20C>G | |
| NM_181825.3:c.1447-20C>G | NP_861546.1:n.1447-20C>G | |
| NM_181828.3:c.1321-20C>G | NP_861966.1:n.1321-20C>G | |
| NM_181829.3:c.1324-20C>G | NP_861967.1:n.1324-20C>G | |
| NM_181830.3:c.1198-20C>G | NP_861968.1:n.1198-20C>G | |
| NM_181831.3:c.1198-20C>G | NP_861969.1:n.1198-20C>G | |
| NM_181832.3:c.1447-20C>G | NP_861970.1:n.1447-20C>G | |
| NR_156186.2:n.1929-20C>G | ||
| NM_181833.3:c.448-16576C>G | NP_861971.1:n.448-16576C>G |