Linked Data
ClinVar Variation Id:
2223149
ClinVar RCV Id:
RCV002707214
dbSNP Id:
rs769781545
ExAC:
2:64114781 A / G
gnomAD v2:
2-64114781-A-G
gnomAD v3:
2-63887647-A-G
gnomAD v4:
2-63887647-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.63887647A>G , CM000664.2:g.63887647A>G | GRCh38 |
| NC_000002.11:g.64114781A>G , CM000664.1:g.64114781A>G | GRCh37 |
| NC_000002.10:g.63968285A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337130.10:c.1314+3A>G MANE Select | ENSP00000338703.5:n.1314+3A>G | |
| ENST00000394417.7:c.1281+3A>G | ENSP00000377939.2:n.1281+3A>G | |
| ENST00000613823.2:c.1281+3A>G | ENSP00000482043.2:n.1281+3A>G | |
| ENST00000676780.1:c.*1503+3A>G | ENSP00000504593.1:n.*1503+3A>G | |
| ENST00000676870.1:c.*251+3A>G | ENSP00000504663.1:n.*251+3A>G | |
| ENST00000677841.1:c.1170+3A>G | ENSP00000502898.1:n.1170+3A>G | |
| ENST00000678298.1:c.*553+3A>G | ENSP00000504265.1:n.*553+3A>G | |
| ENST00000678951.1:c.*1224+3A>G | ENSP00000503329.1:n.*1224+3A>G | |
| ENST00000678974.1:c.*1062+3A>G | ENSP00000503051.1:n.*1062+3A>G | |
| ENST00000679256.1:c.1489+3A>G | ENSP00000504563.1:n.1489+3A>G | |
| ENST00000337130.9:c.1314+3A>G | ENSP00000338703.5:n.1314+3A>G | |
| ENST00000394417.6:c.1281+3A>G | ENSP00000377939.2:n.1281+3A>G | |
| ENST00000445915.6:c.1341+3A>G | ENSP00000411803.2:n.1341+3A>G | |
| ENST00000467648.6:c.1281+3A>G | ENSP00000420793.2:n.1281+3A>G | |
| ENST00000475550.5:n.1416A>G | ||
| ENST00000613823.1:c.1314+3A>G | ENSP00000482043.1:n.1314+3A>G | |
| NM_001001521.1:c.1281+3A>G | NP_001001521.1:n.1281+3A>G | |
| NM_006759.3:c.1314+3A>G | NP_006750.3:n.1314+3A>G | |
| XM_005264537.2:c.1281+3A>G | XP_005264594.1:n.1281+3A>G | |
| XM_005264538.1:c.1281+3A>G | XP_005264595.1:n.1281+3A>G | |
| XM_006712088.1:c.954+3A>G | XP_006712151.1:n.954+3A>G | |
| XM_011533091.1:c.954+3A>G | XP_011531393.1:n.954+3A>G | |
| XM_005264537.3:c.1281+3A>G | XP_005264594.1:n.1281+3A>G | |
| XM_005264538.2:c.1281+3A>G | XP_005264595.1:n.1281+3A>G | |
| XM_006712088.2:c.954+3A>G | XP_006712151.1:n.954+3A>G | |
| XM_017004855.2:c.954+3A>G | XP_016860344.1:n.954+3A>G | |
| XM_017004856.1:c.954+3A>G | XP_016860345.1:n.954+3A>G | |
| XM_017004857.2:c.954+3A>G | XP_016860346.1:n.954+3A>G | |
| XM_024453120.1:c.1281+3A>G | XP_024308888.1:n.1281+3A>G | |
| XM_024453121.1:c.954+3A>G | XP_024308889.1:n.954+3A>G | |
| XM_024453122.1:c.954+3A>G | XP_024308890.1:n.954+3A>G | |
| XM_024453123.1:c.954+3A>G | XP_024308891.1:n.954+3A>G | |
| XM_024453124.1:c.954+3A>G | XP_024308892.1:n.954+3A>G | |
| NM_001001521.2:c.1281+3A>G | NP_001001521.1:n.1281+3A>G | |
| NM_001377524.1:c.1281+3A>G | NP_001364453.1:n.1281+3A>G | |
| NM_001377525.1:c.1281+3A>G | NP_001364454.1:n.1281+3A>G | |
| NM_001377526.1:c.954+3A>G | NP_001364455.1:n.954+3A>G | |
| NM_001377527.1:c.954+3A>G | NP_001364456.1:n.954+3A>G | |
| NM_001377528.1:c.954+3A>G | NP_001364457.1:n.954+3A>G | |
| NM_001377529.1:c.954+3A>G | NP_001364458.1:n.954+3A>G | |
| NM_006759.4:c.1314+3A>G MANE Select | NP_006750.3:n.1314+3A>G |