Linked Data
ClinVar Variation Id:
381876
dbSNP Id:
rs45568335
ExAC:
14:74756738 G / A
gnomAD v2:
14-74756738-G-A
gnomAD v3:
14-74290035-G-A
gnomAD v4:
14-74290035-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74290035G>A , CM000676.2:g.74290035G>A | GRCh38 |
| NC_000014.8:g.74756738G>A , CM000676.1:g.74756738G>A | GRCh37 |
| NC_000014.7:g.73826491G>A | NCBI36 |
| NG_032875.1:g.18030C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356924.9:c.1411C>T MANE Select | ENSP00000349396.4:p.Arg471Trp | |
| ENST00000356924.8:c.1411C>T | ENSP00000349396.4:p.Arg471Trp | |
| ENST00000466822.1:n.293C>T | ||
| ENST00000474270.1:c.470+256C>T | ||
| ENST00000481348.5:c.246C>T | ||
| ENST00000481935.5:c.*1112C>T | ENSP00000436782.1:n.*1112C>T | |
| ENST00000496015.5:n.1004+256C>T | ||
| ENST00000553486.5:c.*1112C>T | ENSP00000450611.1:n.*1112C>T | |
| ENST00000553745.5:c.*1121C>T | ENSP00000451778.1:n.*1121C>T | |
| ENST00000556517.1:c.246C>T | ||
| NM_005050.3:c.1411C>T | NP_005041.1:p.Arg471Trp | |
| NR_003256.2:n.1435C>T | ||
| XM_005267938.3:c.1327+256C>T | XP_005267995.1:n.1327+256C>T | |
| XM_005267939.2:c.997C>T | XP_005267996.1:p.Arg333Trp | |
| XM_005267940.2:c.997C>T | XP_005267997.1:p.Arg333Trp | |
| XM_005267941.3:c.997C>T | XP_005267998.1:p.Arg333Trp | |
| XM_005267942.3:c.997C>T | XP_005267999.1:p.Arg333Trp | |
| XM_005267946.2:c.934C>T | XP_005268003.1:p.Arg312Trp | |
| XM_005267949.2:c.934C>T | XP_005268006.1:p.Arg312Trp | |
| XM_005267953.2:c.622C>T | XP_005268010.1:p.Arg208Trp | |
| XM_006720223.1:c.1150C>T | XP_006720286.1:p.Arg384Trp | |
| XM_011537041.1:c.1138C>T | XP_011535343.1:p.Arg380Trp | |
| XM_011537042.1:c.934C>T | XP_011535344.1:p.Arg312Trp | |
| XM_011537043.1:c.622C>T | XP_011535345.1:p.Arg208Trp | |
| XR_245710.2:n.1412+256C>T | ||
| XR_943500.1:n.1496C>T | ||
| NM_001353591.1:c.1285C>T | NP_001340520.1:p.Arg429Trp | |
| NM_001353592.1:c.1285C>T | NP_001340521.1:p.Arg429Trp | |
| NM_001353593.1:c.1150C>T | NP_001340522.1:p.Arg384Trp | |
| NM_001353594.1:c.1099C>T | NP_001340523.1:p.Arg367Trp | |
| NM_001353595.1:c.997C>T | NP_001340524.1:p.Arg333Trp | |
| NM_001353596.1:c.997C>T | NP_001340525.1:p.Arg333Trp | |
| NM_001353597.1:c.946C>T | NP_001340526.1:p.Arg316Trp | |
| NM_001353598.1:c.934C>T | NP_001340527.1:p.Arg312Trp | |
| NM_001353599.1:c.934C>T | NP_001340528.1:p.Arg312Trp | |
| NM_001353600.1:c.934C>T | NP_001340529.1:p.Arg312Trp | |
| NM_001353601.1:c.934C>T | NP_001340530.1:p.Arg312Trp | |
| NM_001353602.1:c.622C>T | NP_001340531.1:p.Arg208Trp | |
| NM_001353603.1:c.622C>T | NP_001340532.1:p.Arg208Trp | |
| NM_001353604.1:c.622C>T | NP_001340533.1:p.Arg208Trp | |
| NM_001353605.1:c.622C>T | NP_001340534.1:p.Arg208Trp | |
| NM_001353606.1:c.622C>T | NP_001340535.1:p.Arg208Trp | |
| NM_001353607.1:c.622C>T | NP_001340536.1:p.Arg208Trp | |
| NM_001353608.1:c.622C>T | NP_001340537.1:p.Arg208Trp | |
| NM_001353609.1:c.622C>T | NP_001340538.1:p.Arg208Trp | |
| NM_001353610.1:c.622C>T | NP_001340539.1:p.Arg208Trp | |
| NM_020324.2:c.934C>T | NP_064720.1:p.Arg312Trp | |
| NM_020325.2:c.1411C>T | NP_064730.1:p.Arg471Trp | |
| NR_148466.1:n.1379+256C>T | ||
| NR_148467.1:n.1160+256C>T | ||
| NR_148468.1:n.1137+256C>T | ||
| NR_148469.1:n.1384+256C>T | ||
| NR_148470.1:n.1346+256C>T | ||
| NR_148471.1:n.1384+256C>T | ||
| NR_148472.1:n.1433+256C>T | ||
| NR_148473.1:n.1360+256C>T | ||
| NR_148474.1:n.1479+256C>T | ||
| XM_005267940.3:c.997C>T | XP_005267997.1:p.Arg333Trp | |
| XM_005267942.4:c.997C>T | XP_005267999.1:p.Arg333Trp | |
| XM_011537041.2:c.1138C>T | XP_011535343.1:p.Arg380Trp | |
| XM_017021531.2:c.1411C>T | XP_016877020.1:p.Arg471Trp | |
| XM_017021534.1:c.799C>T | XP_016877023.1:p.Arg267Trp | |
| XM_017021539.1:c.622C>T | XP_016877028.1:p.Arg208Trp | |
| XM_017021540.2:c.622C>T | XP_016877029.1:p.Arg208Trp | |
| XM_017021541.2:c.622C>T | XP_016877030.1:p.Arg208Trp | |
| XM_017021542.1:c.622C>T | XP_016877031.1:p.Arg208Trp | |
| XM_024449675.1:c.1024C>T | XP_024305443.1:p.Arg342Trp | |
| XM_024449676.1:c.934C>T | XP_024305444.1:p.Arg312Trp | |
| XM_024449677.1:c.934C>T | XP_024305445.1:p.Arg312Trp | |
| XM_024449678.1:c.622C>T | XP_024305446.1:p.Arg208Trp | |
| XM_024449679.1:c.622C>T | XP_024305447.1:p.Arg208Trp | |
| XR_001750476.2:n.1486C>T | ||
| XR_001750478.2:n.1402+256C>T | ||
| XR_001750480.2:n.1402+256C>T | ||
| XR_001750481.2:n.1403-63C>T | ||
| XR_001750482.1:n.1421C>T | ||
| XR_001750484.1:n.1282+256C>T | ||
| XR_002957565.1:n.1380C>T | ||
| XR_245710.4:n.1402+256C>T | ||
| XR_943500.3:n.1486C>T | ||
| NM_005050.4:c.1411C>T MANE Select | NP_005041.1:p.Arg471Trp | |
| NM_001353591.2:c.1285C>T | NP_001340520.1:p.Arg429Trp | |
| NM_001353592.2:c.1285C>T | NP_001340521.1:p.Arg429Trp | |
| NM_001353593.2:c.1150C>T | NP_001340522.1:p.Arg384Trp | |
| NM_001353594.2:c.1099C>T | NP_001340523.1:p.Arg367Trp | |
| NM_001353595.2:c.997C>T | NP_001340524.1:p.Arg333Trp | |
| NM_001353596.2:c.997C>T | NP_001340525.1:p.Arg333Trp | |
| NM_001353597.2:c.946C>T | NP_001340526.1:p.Arg316Trp | |
| NM_001353598.2:c.934C>T | NP_001340527.1:p.Arg312Trp | |
| NM_001353599.2:c.934C>T | NP_001340528.1:p.Arg312Trp | |
| NM_001353600.2:c.934C>T | NP_001340529.1:p.Arg312Trp | |
| NM_001353601.2:c.934C>T | NP_001340530.1:p.Arg312Trp | |
| NM_001353602.2:c.622C>T | NP_001340531.1:p.Arg208Trp | |
| NM_001353603.2:c.622C>T | NP_001340532.1:p.Arg208Trp | |
| NM_001353604.2:c.622C>T | NP_001340533.1:p.Arg208Trp | |
| NM_001353605.2:c.622C>T | NP_001340534.1:p.Arg208Trp | |
| NM_001353606.2:c.622C>T | NP_001340535.1:p.Arg208Trp | |
| NM_001353607.2:c.622C>T | NP_001340536.1:p.Arg208Trp | |
| NM_001353608.2:c.622C>T | NP_001340537.1:p.Arg208Trp | |
| NM_001353609.2:c.622C>T | NP_001340538.1:p.Arg208Trp | |
| NM_001353610.2:c.622C>T | NP_001340539.1:p.Arg208Trp | |
| NM_020324.3:c.934C>T | NP_064720.1:p.Arg312Trp | |
| NM_020325.3:c.1411C>T | NP_064730.1:p.Arg471Trp | |
| NR_003256.3:n.1305C>T | ||
| NR_148466.2:n.1249+256C>T | ||
| NR_148467.2:n.1030+256C>T | ||
| NR_148468.2:n.1007+256C>T | ||
| NR_148469.2:n.1254+256C>T | ||
| NR_148470.2:n.1216+256C>T | ||
| NR_148471.2:n.1254+256C>T | ||
| NR_148472.2:n.1303+256C>T | ||
| NR_148473.2:n.1230+256C>T | ||
| NR_148474.2:n.1349+256C>T |