Linked Data
ClinVar Variation Id:
424218
dbSNP Id:
rs139901585
ExAC:
14:74755460 C / T
gnomAD v2:
14-74755460-C-T
gnomAD v3:
14-74288757-C-T
gnomAD v4:
14-74288757-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74288757C>T , CM000676.2:g.74288757C>T | GRCh38 |
| NC_000014.8:g.74755460C>T , CM000676.1:g.74755460C>T | GRCh37 |
| NC_000014.7:g.73825213C>T | NCBI36 |
| NG_032875.1:g.19308G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356924.9:c.1465G>A MANE Select | ENSP00000349396.4:p.Asp489Asn | |
| ENST00000356924.8:c.1465G>A | ENSP00000349396.4:p.Asp489Asn | |
| ENST00000474270.1:c.516G>A | ||
| ENST00000481348.5:c.300G>A | ||
| ENST00000481935.5:c.*1166G>A | ENSP00000436782.1:n.*1166G>A | |
| ENST00000484380.2:n.1197G>A | ||
| ENST00000553486.5:c.*1166G>A | ENSP00000450611.1:n.*1166G>A | |
| ENST00000553745.5:c.*1175G>A | ENSP00000451778.1:n.*1175G>A | |
| ENST00000555904.1:c.12G>A | ||
| ENST00000556517.1:c.300G>A | ||
| NM_005050.3:c.1465G>A | NP_005041.1:p.Asp489Asn | |
| NR_003256.2:n.1489G>A | ||
| XM_005267939.2:c.1051G>A | XP_005267996.1:p.Asp351Asn | |
| XM_005267940.2:c.1051G>A | XP_005267997.1:p.Asp351Asn | |
| XM_005267941.3:c.1051G>A | XP_005267998.1:p.Asp351Asn | |
| XM_005267942.3:c.1051G>A | XP_005267999.1:p.Asp351Asn | |
| XM_005267946.2:c.988G>A | XP_005268003.1:p.Asp330Asn | |
| XM_005267949.2:c.988G>A | XP_005268006.1:p.Asp330Asn | |
| XM_005267953.2:c.676G>A | XP_005268010.1:p.Asp226Asn | |
| XM_006720223.1:c.1204G>A | XP_006720286.1:p.Asp402Asn | |
| XM_011537041.1:c.1192G>A | XP_011535343.1:p.Asp398Asn | |
| XM_011537042.1:c.988G>A | XP_011535344.1:p.Asp330Asn | |
| XM_011537043.1:c.676G>A | XP_011535345.1:p.Asp226Asn | |
| XR_245710.2:n.1458G>A | ||
| XR_943500.1:n.2070G>A | ||
| NM_001353591.1:c.1339G>A | NP_001340520.1:p.Asp447Asn | |
| NM_001353592.1:c.1339G>A | NP_001340521.1:p.Asp447Asn | |
| NM_001353593.1:c.1204G>A | NP_001340522.1:p.Asp402Asn | |
| NM_001353594.1:c.1153G>A | NP_001340523.1:p.Asp385Asn | |
| NM_001353595.1:c.1051G>A | NP_001340524.1:p.Asp351Asn | |
| NM_001353596.1:c.1051G>A | NP_001340525.1:p.Asp351Asn | |
| NM_001353597.1:c.1000G>A | NP_001340526.1:p.Asp334Asn | |
| NM_001353598.1:c.988G>A | NP_001340527.1:p.Asp330Asn | |
| NM_001353599.1:c.988G>A | NP_001340528.1:p.Asp330Asn | |
| NM_001353600.1:c.988G>A | NP_001340529.1:p.Asp330Asn | |
| NM_001353601.1:c.988G>A | NP_001340530.1:p.Asp330Asn | |
| NM_001353602.1:c.676G>A | NP_001340531.1:p.Asp226Asn | |
| NM_001353603.1:c.676G>A | NP_001340532.1:p.Asp226Asn | |
| NM_001353604.1:c.676G>A | NP_001340533.1:p.Asp226Asn | |
| NM_001353605.1:c.676G>A | NP_001340534.1:p.Asp226Asn | |
| NM_001353606.1:c.676G>A | NP_001340535.1:p.Asp226Asn | |
| NM_001353607.1:c.676G>A | NP_001340536.1:p.Asp226Asn | |
| NM_001353608.1:c.676G>A | NP_001340537.1:p.Asp226Asn | |
| NM_001353609.1:c.676G>A | NP_001340538.1:p.Asp226Asn | |
| NM_001353610.1:c.676G>A | NP_001340539.1:p.Asp226Asn | |
| NM_020324.2:c.988G>A | NP_064720.1:p.Asp330Asn | |
| NM_020325.2:c.1465G>A | NP_064730.1:p.Asp489Asn | |
| NR_148466.1:n.1425G>A | ||
| NR_148467.1:n.1206G>A | ||
| NR_148468.1:n.1183G>A | ||
| NR_148469.1:n.1430G>A | ||
| NR_148470.1:n.1392G>A | ||
| NR_148471.1:n.1430G>A | ||
| NR_148472.1:n.1479G>A | ||
| NR_148473.1:n.1406G>A | ||
| NR_148474.1:n.1525G>A | ||
| XM_005267940.3:c.1051G>A | XP_005267997.1:p.Asp351Asn | |
| XM_005267942.4:c.1051G>A | XP_005267999.1:p.Asp351Asn | |
| XM_011537041.2:c.1192G>A | XP_011535343.1:p.Asp398Asn | |
| XM_017021531.2:c.1465G>A | XP_016877020.1:p.Asp489Asn | |
| XM_017021534.1:c.853G>A | XP_016877023.1:p.Asp285Asn | |
| XM_017021539.1:c.676G>A | XP_016877028.1:p.Asp226Asn | |
| XM_017021540.2:c.676G>A | XP_016877029.1:p.Asp226Asn | |
| XM_017021541.2:c.676G>A | XP_016877030.1:p.Asp226Asn | |
| XM_017021542.1:c.676G>A | XP_016877031.1:p.Asp226Asn | |
| XM_024449675.1:c.1078G>A | XP_024305443.1:p.Asp360Asn | |
| XM_024449676.1:c.988G>A | XP_024305444.1:p.Asp330Asn | |
| XM_024449677.1:c.988G>A | XP_024305445.1:p.Asp330Asn | |
| XM_024449678.1:c.676G>A | XP_024305446.1:p.Asp226Asn | |
| XM_024449679.1:c.676G>A | XP_024305447.1:p.Asp226Asn | |
| XR_001750476.2:n.1540G>A | ||
| XR_001750478.2:n.1968G>A | ||
| XR_001750480.2:n.1448G>A | ||
| XR_001750481.2:n.1602G>A | ||
| XR_001750482.1:n.1475G>A | ||
| XR_001750484.1:n.1848G>A | ||
| XR_002957565.1:n.1434G>A | ||
| XR_245710.4:n.1448G>A | ||
| XR_943500.3:n.2060G>A | ||
| NM_005050.4:c.1465G>A MANE Select | NP_005041.1:p.Asp489Asn | |
| NM_001353591.2:c.1339G>A | NP_001340520.1:p.Asp447Asn | |
| NM_001353592.2:c.1339G>A | NP_001340521.1:p.Asp447Asn | |
| NM_001353593.2:c.1204G>A | NP_001340522.1:p.Asp402Asn | |
| NM_001353594.2:c.1153G>A | NP_001340523.1:p.Asp385Asn | |
| NM_001353595.2:c.1051G>A | NP_001340524.1:p.Asp351Asn | |
| NM_001353596.2:c.1051G>A | NP_001340525.1:p.Asp351Asn | |
| NM_001353597.2:c.1000G>A | NP_001340526.1:p.Asp334Asn | |
| NM_001353598.2:c.988G>A | NP_001340527.1:p.Asp330Asn | |
| NM_001353599.2:c.988G>A | NP_001340528.1:p.Asp330Asn | |
| NM_001353600.2:c.988G>A | NP_001340529.1:p.Asp330Asn | |
| NM_001353601.2:c.988G>A | NP_001340530.1:p.Asp330Asn | |
| NM_001353602.2:c.676G>A | NP_001340531.1:p.Asp226Asn | |
| NM_001353603.2:c.676G>A | NP_001340532.1:p.Asp226Asn | |
| NM_001353604.2:c.676G>A | NP_001340533.1:p.Asp226Asn | |
| NM_001353605.2:c.676G>A | NP_001340534.1:p.Asp226Asn | |
| NM_001353606.2:c.676G>A | NP_001340535.1:p.Asp226Asn | |
| NM_001353607.2:c.676G>A | NP_001340536.1:p.Asp226Asn | |
| NM_001353608.2:c.676G>A | NP_001340537.1:p.Asp226Asn | |
| NM_001353609.2:c.676G>A | NP_001340538.1:p.Asp226Asn | |
| NM_001353610.2:c.676G>A | NP_001340539.1:p.Asp226Asn | |
| NM_020324.3:c.988G>A | NP_064720.1:p.Asp330Asn | |
| NM_020325.3:c.1465G>A | NP_064730.1:p.Asp489Asn | |
| NR_003256.3:n.1359G>A | ||
| NR_148466.2:n.1295G>A | ||
| NR_148467.2:n.1076G>A | ||
| NR_148468.2:n.1053G>A | ||
| NR_148469.2:n.1300G>A | ||
| NR_148470.2:n.1262G>A | ||
| NR_148471.2:n.1300G>A | ||
| NR_148472.2:n.1349G>A | ||
| NR_148473.2:n.1276G>A | ||
| NR_148474.2:n.1395G>A |