Linked Data
ClinVar Variation Id:
382994
dbSNP Id:
rs141766346
gnomAD v2:
14-74753452-C-T
gnomAD v3:
14-74286749-C-T
gnomAD v4:
14-74286749-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74286749C>T , CM000676.2:g.74286749C>T | GRCh38 |
| NC_000014.8:g.74753452C>T , CM000676.1:g.74753452C>T | GRCh37 |
| NC_000014.7:g.73823205C>T | NCBI36 |
| NG_032875.1:g.21316G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356924.9:c.1704G>A MANE Select | ENSP00000349396.4:p.Gln568= | |
| ENST00000356924.8:c.1704G>A | ENSP00000349396.4:p.Gln568= | |
| ENST00000465085.2:n.900G>A | ||
| ENST00000474270.1:c.755G>A | ||
| ENST00000481348.5:c.595G>A | ||
| ENST00000481935.5:c.*1405G>A | ENSP00000436782.1:n.*1405G>A | |
| ENST00000553486.5:c.*1405G>A | ENSP00000450611.1:n.*1405G>A | |
| ENST00000553745.5:c.*1414G>A | ENSP00000451778.1:n.*1414G>A | |
| ENST00000555904.1:c.251G>A | ||
| ENST00000556517.1:c.595G>A | ||
| NM_005050.3:c.1704G>A | NP_005041.1:p.Gln568= | |
| NR_003256.2:n.1728G>A | ||
| XM_005267939.2:c.1290G>A | XP_005267996.1:p.Gln430= | |
| XM_005267940.2:c.1290G>A | XP_005267997.1:p.Gln430= | |
| XM_005267941.3:c.1290G>A | XP_005267998.1:p.Gln430= | |
| XM_005267942.3:c.1290G>A | XP_005267999.1:p.Gln430= | |
| XM_005267946.2:c.1227G>A | XP_005268003.1:p.Gln409= | |
| XM_005267949.2:c.1227G>A | XP_005268006.1:p.Gln409= | |
| XM_005267953.2:c.915G>A | XP_005268010.1:p.Gln305= | |
| XM_006720223.1:c.1443G>A | XP_006720286.1:p.Gln481= | |
| XM_011537041.1:c.1431G>A | XP_011535343.1:p.Gln477= | |
| XM_011537042.1:c.1227G>A | XP_011535344.1:p.Gln409= | |
| XM_011537043.1:c.915G>A | XP_011535345.1:p.Gln305= | |
| XR_245710.2:n.1697G>A | ||
| NM_001353591.1:c.1578G>A | NP_001340520.1:p.Gln526= | |
| NM_001353592.1:c.1578G>A | NP_001340521.1:p.Gln526= | |
| NM_001353593.1:c.1443G>A | NP_001340522.1:p.Gln481= | |
| NM_001353594.1:c.1392G>A | NP_001340523.1:p.Gln464= | |
| NM_001353595.1:c.1290G>A | NP_001340524.1:p.Gln430= | |
| NM_001353596.1:c.1290G>A | NP_001340525.1:p.Gln430= | |
| NM_001353597.1:c.1239G>A | NP_001340526.1:p.Gln413= | |
| NM_001353598.1:c.1227G>A | NP_001340527.1:p.Gln409= | |
| NM_001353599.1:c.1227G>A | NP_001340528.1:p.Gln409= | |
| NM_001353600.1:c.1227G>A | NP_001340529.1:p.Gln409= | |
| NM_001353601.1:c.1227G>A | NP_001340530.1:p.Gln409= | |
| NM_001353602.1:c.915G>A | NP_001340531.1:p.Gln305= | |
| NM_001353603.1:c.915G>A | NP_001340532.1:p.Gln305= | |
| NM_001353604.1:c.915G>A | NP_001340533.1:p.Gln305= | |
| NM_001353605.1:c.915G>A | NP_001340534.1:p.Gln305= | |
| NM_001353606.1:c.915G>A | NP_001340535.1:p.Gln305= | |
| NM_001353607.1:c.915G>A | NP_001340536.1:p.Gln305= | |
| NM_001353608.1:c.915G>A | NP_001340537.1:p.Gln305= | |
| NM_001353609.1:c.915G>A | NP_001340538.1:p.Gln305= | |
| NM_001353610.1:c.*41G>A | NP_001340539.1:n.*41G>A | |
| NM_020324.2:c.1227G>A | NP_064720.1:p.Gln409= | |
| NM_020325.2:c.1704G>A | NP_064730.1:p.Gln568= | |
| NR_148466.1:n.1664G>A | ||
| NR_148467.1:n.1445G>A | ||
| NR_148468.1:n.1422G>A | ||
| NR_148469.1:n.1669G>A | ||
| NR_148470.1:n.1631G>A | ||
| NR_148471.1:n.1669G>A | ||
| NR_148472.1:n.1718G>A | ||
| NR_148473.1:n.1645G>A | ||
| NR_148474.1:n.1764G>A | ||
| XM_005267940.3:c.1290G>A | XP_005267997.1:p.Gln430= | |
| XM_005267942.4:c.1290G>A | XP_005267999.1:p.Gln430= | |
| XM_011537041.2:c.1431G>A | XP_011535343.1:p.Gln477= | |
| XM_017021531.2:c.*41G>A | XP_016877020.1:n.*41G>A | |
| XM_017021534.1:c.1092G>A | XP_016877023.1:p.Gln364= | |
| XM_017021539.1:c.915G>A | XP_016877028.1:p.Gln305= | |
| XM_017021540.2:c.915G>A | XP_016877029.1:p.Gln305= | |
| XM_017021541.2:c.915G>A | XP_016877030.1:p.Gln305= | |
| XM_017021542.1:c.915G>A | XP_016877031.1:p.Gln305= | |
| XM_024449675.1:c.1317G>A | XP_024305443.1:p.Gln439= | |
| XM_024449676.1:c.1227G>A | XP_024305444.1:p.Gln409= | |
| XM_024449677.1:c.1227G>A | XP_024305445.1:p.Gln409= | |
| XM_024449678.1:c.915G>A | XP_024305446.1:p.Gln305= | |
| XM_024449679.1:c.915G>A | XP_024305447.1:p.Gln305= | |
| XR_001750476.2:n.1835G>A | ||
| XR_001750478.2:n.2207G>A | ||
| XR_001750480.2:n.1743G>A | ||
| XR_001750482.1:n.1770G>A | ||
| XR_001750484.1:n.2087G>A | ||
| XR_002957565.1:n.1729G>A | ||
| XR_245710.4:n.1687G>A | ||
| XR_943500.3:n.2299G>A | ||
| NM_005050.4:c.1704G>A MANE Select | NP_005041.1:p.Gln568= | |
| NM_001353591.2:c.1578G>A | NP_001340520.1:p.Gln526= | |
| NM_001353592.2:c.1578G>A | NP_001340521.1:p.Gln526= | |
| NM_001353593.2:c.1443G>A | NP_001340522.1:p.Gln481= | |
| NM_001353594.2:c.1392G>A | NP_001340523.1:p.Gln464= | |
| NM_001353595.2:c.1290G>A | NP_001340524.1:p.Gln430= | |
| NM_001353596.2:c.1290G>A | NP_001340525.1:p.Gln430= | |
| NM_001353597.2:c.1239G>A | NP_001340526.1:p.Gln413= | |
| NM_001353598.2:c.1227G>A | NP_001340527.1:p.Gln409= | |
| NM_001353599.2:c.1227G>A | NP_001340528.1:p.Gln409= | |
| NM_001353600.2:c.1227G>A | NP_001340529.1:p.Gln409= | |
| NM_001353601.2:c.1227G>A | NP_001340530.1:p.Gln409= | |
| NM_001353602.2:c.915G>A | NP_001340531.1:p.Gln305= | |
| NM_001353603.2:c.915G>A | NP_001340532.1:p.Gln305= | |
| NM_001353604.2:c.915G>A | NP_001340533.1:p.Gln305= | |
| NM_001353605.2:c.915G>A | NP_001340534.1:p.Gln305= | |
| NM_001353606.2:c.915G>A | NP_001340535.1:p.Gln305= | |
| NM_001353607.2:c.915G>A | NP_001340536.1:p.Gln305= | |
| NM_001353608.2:c.915G>A | NP_001340537.1:p.Gln305= | |
| NM_001353609.2:c.915G>A | NP_001340538.1:p.Gln305= | |
| NM_001353610.2:c.*41G>A | NP_001340539.1:n.*41G>A | |
| NM_020324.3:c.1227G>A | NP_064720.1:p.Gln409= | |
| NM_020325.3:c.1704G>A | NP_064730.1:p.Gln568= | |
| NR_003256.3:n.1598G>A | ||
| NR_148466.2:n.1534G>A | ||
| NR_148467.2:n.1315G>A | ||
| NR_148468.2:n.1292G>A | ||
| NR_148469.2:n.1539G>A | ||
| NR_148470.2:n.1501G>A | ||
| NR_148471.2:n.1539G>A | ||
| NR_148472.2:n.1588G>A | ||
| NR_148473.2:n.1515G>A | ||
| NR_148474.2:n.1634G>A |