Linked Data
ClinVar Variation Id:
469705
dbSNP Id:
rs534358523
ExAC:
5:112157691 A / G
gnomAD v2:
5-112157691-A-G
gnomAD v3:
5-112821994-A-G
gnomAD v4:
5-112821994-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112821994A>G , CM000667.2:g.112821994A>G | GRCh38 |
| NC_000005.9:g.112157691A>G , CM000667.1:g.112157691A>G | GRCh37 |
| NC_000005.8:g.112185590A>G | NCBI36 |
| NG_008481.4:g.134474A>G , LRG_130:g.134474A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.1408+3A>G | ENSP00000484935.2:n.1408+3A>G | |
| ENST00000504915.3:c.1408+3A>G | ENSP00000473355.2:n.1408+3A>G | |
| ENST00000505084.2:n.1464+3A>G | ||
| ENST00000505350.2:c.*1414+3A>G | ENSP00000481752.1:n.*1414+3A>G | |
| ENST00000507379.6:c.1354+3A>G | ENSP00000423224.2:n.1354+3A>G | |
| ENST00000509732.6:c.1408+3A>G | ENSP00000426541.2:n.1408+3A>G | |
| ENST00000512211.7:c.1408+3A>G | ENSP00000423828.3:n.1408+3A>G | |
| ENST00000257430.9:c.1408+3A>G MANE Select | ENSP00000257430.4:n.1408+3A>G | |
| ENST00000257430.8:c.1408+3A>G | ENSP00000257430.4:n.1408+3A>G | |
| ENST00000502371.2:c.96+3A>G | ||
| ENST00000504915.2:c.43+3A>G | ENSP00000473355.1:n.43+3A>G | |
| ENST00000507379.5:c.1354+3A>G | ENSP00000423224.1:n.1354+3A>G | |
| ENST00000508376.6:c.1408+3A>G | ENSP00000427089.2:n.1408+3A>G | |
| ENST00000508624.5:c.*730+3A>G | ENSP00000424265.1:n.*730+3A>G | |
| ENST00000512211.6:c.1408+3A>G | ENSP00000423828.2:n.1408+3A>G | |
| NM_000038.5:c.1408+3A>G | NP_000029.2:n.1408+3A>G | |
| NM_001127510.2:c.1408+3A>G | NP_001120982.1:n.1408+3A>G | |
| NM_001127511.2:c.1354+3A>G | NP_001120983.2:n.1354+3A>G | |
| NM_001354895.1:c.1408+3A>G | NP_001341824.1:n.1408+3A>G | |
| NM_001354896.1:c.1408+3A>G | NP_001341825.1:n.1408+3A>G | |
| NM_001354897.1:c.1438+3A>G | NP_001341826.1:n.1438+3A>G | |
| NM_001354898.1:c.1333+3A>G | NP_001341827.1:n.1333+3A>G | |
| NM_001354899.1:c.1324+3A>G | NP_001341828.1:n.1324+3A>G | |
| NM_001354900.1:c.1231+3A>G | NP_001341829.1:n.1231+3A>G | |
| NM_001354901.1:c.1231+3A>G | NP_001341830.1:n.1231+3A>G | |
| NM_001354902.1:c.1135+3A>G | NP_001341831.1:n.1135+3A>G | |
| NM_001354903.1:c.1105+3A>G | NP_001341832.1:n.1105+3A>G | |
| NM_001354904.1:c.1030+3A>G | NP_001341833.1:n.1030+3A>G | |
| NM_001354905.1:c.928+3A>G | NP_001341834.1:n.928+3A>G | |
| NM_001354906.1:c.559+3A>G | NP_001341835.1:n.559+3A>G | |
| NM_000038.6:c.1408+3A>G MANE Select | NP_000029.2:n.1408+3A>G | |
| NM_001127510.3:c.1408+3A>G | NP_001120982.1:n.1408+3A>G | |
| NM_001127511.3:c.1354+3A>G | NP_001120983.2:n.1354+3A>G | |
| NM_001354895.2:c.1408+3A>G | NP_001341824.1:n.1408+3A>G | |
| NM_001354896.2:c.1408+3A>G | NP_001341825.1:n.1408+3A>G | |
| NM_001354897.2:c.1438+3A>G | NP_001341826.1:n.1438+3A>G | |
| NM_001354898.2:c.1333+3A>G | NP_001341827.1:n.1333+3A>G | |
| NM_001354899.2:c.1324+3A>G | NP_001341828.1:n.1324+3A>G | |
| NM_001354900.2:c.1231+3A>G | NP_001341829.1:n.1231+3A>G | |
| NM_001354901.2:c.1231+3A>G | NP_001341830.1:n.1231+3A>G | |
| NM_001354902.2:c.1135+3A>G | NP_001341831.1:n.1135+3A>G | |
| NM_001354903.2:c.1105+3A>G | NP_001341832.1:n.1105+3A>G | |
| NM_001354904.2:c.1030+3A>G | NP_001341833.1:n.1030+3A>G | |
| NM_001354905.2:c.928+3A>G | NP_001341834.1:n.928+3A>G | |
| NM_001354906.2:c.559+3A>G | NP_001341835.1:n.559+3A>G |