Linked Data
ClinVar Variation Id:
1144572
dbSNP Id:
rs369281524
ExAC:
5:112175914 G / A
gnomAD v2:
5-112175914-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112840217G>A , CM000667.2:g.112840217G>A | GRCh38 |
| NC_000005.9:g.112175914G>A , CM000667.1:g.112175914G>A | GRCh37 |
| NC_000005.8:g.112203813G>A | NCBI36 |
| NG_008481.4:g.152697G>A , LRG_130:g.152697G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.4677G>A | ENSP00000473355.2:p.Gln1559= | |
| ENST00000505350.2:c.*4629G>A | ENSP00000481752.1:n.*4629G>A | |
| ENST00000507379.6:c.4569G>A | ENSP00000423224.2:p.Gln1523= | |
| ENST00000509732.6:c.4623G>A | ENSP00000426541.2:p.Gln1541= | |
| ENST00000512211.7:c.4623G>A | ENSP00000423828.3:p.Gln1541= | |
| ENST00000257430.9:c.4623G>A MANE Select | ENSP00000257430.4:p.Gln1541= | |
| ENST00000257430.8:c.4623G>A | ENSP00000257430.4:p.Gln1541= | |
| ENST00000508376.6:c.4623G>A | ENSP00000427089.2:p.Gln1541= | |
| ENST00000508624.5:c.*3945G>A | ENSP00000424265.1:n.*3945G>A | |
| ENST00000520401.1:c.230+11245G>A | ||
| NM_000038.5:c.4623G>A | NP_000029.2:p.Gln1541= | |
| NM_001127510.2:c.4623G>A | NP_001120982.1:p.Gln1541= | |
| NM_001127511.2:c.4569G>A | NP_001120983.2:p.Gln1523= | |
| NM_001354895.1:c.4623G>A | NP_001341824.1:p.Gln1541= | |
| NM_001354896.1:c.4677G>A | NP_001341825.1:p.Gln1559= | |
| NM_001354897.1:c.4653G>A | NP_001341826.1:p.Gln1551= | |
| NM_001354898.1:c.4548G>A | NP_001341827.1:p.Gln1516= | |
| NM_001354899.1:c.4539G>A | NP_001341828.1:p.Gln1513= | |
| NM_001354900.1:c.4500G>A | NP_001341829.1:p.Gln1500= | |
| NM_001354901.1:c.4446G>A | NP_001341830.1:p.Gln1482= | |
| NM_001354902.1:c.4350G>A | NP_001341831.1:p.Gln1450= | |
| NM_001354903.1:c.4320G>A | NP_001341832.1:p.Gln1440= | |
| NM_001354904.1:c.4245G>A | NP_001341833.1:p.Gln1415= | |
| NM_001354905.1:c.4143G>A | NP_001341834.1:p.Gln1381= | |
| NM_001354906.1:c.3774G>A | NP_001341835.1:p.Gln1258= | |
| NM_000038.6:c.4623G>A MANE Select | NP_000029.2:p.Gln1541= | |
| NM_001127510.3:c.4623G>A | NP_001120982.1:p.Gln1541= | |
| NM_001127511.3:c.4569G>A | NP_001120983.2:p.Gln1523= | |
| NM_001354895.2:c.4623G>A | NP_001341824.1:p.Gln1541= | |
| NM_001354896.2:c.4677G>A | NP_001341825.1:p.Gln1559= | |
| NM_001354897.2:c.4653G>A | NP_001341826.1:p.Gln1551= | |
| NM_001354898.2:c.4548G>A | NP_001341827.1:p.Gln1516= | |
| NM_001354899.2:c.4539G>A | NP_001341828.1:p.Gln1513= | |
| NM_001354900.2:c.4500G>A | NP_001341829.1:p.Gln1500= | |
| NM_001354901.2:c.4446G>A | NP_001341830.1:p.Gln1482= | |
| NM_001354902.2:c.4350G>A | NP_001341831.1:p.Gln1450= | |
| NM_001354903.2:c.4320G>A | NP_001341832.1:p.Gln1440= | |
| NM_001354904.2:c.4245G>A | NP_001341833.1:p.Gln1415= | |
| NM_001354905.2:c.4143G>A | NP_001341834.1:p.Gln1381= | |
| NM_001354906.2:c.3774G>A | NP_001341835.1:p.Gln1258= |