Linked Data
ClinVar Variation Id:
382479
dbSNP Id:
rs141868117
ExAC:
14:74759920 G / A
gnomAD v2:
14-74759920-G-A
gnomAD v3:
14-74293217-G-A
gnomAD v4:
14-74293217-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74293217G>A , CM000676.2:g.74293217G>A | GRCh38 |
| NC_000014.8:g.74759920G>A , CM000676.1:g.74759920G>A | GRCh37 |
| NC_000014.7:g.73829673G>A | NCBI36 |
| NG_032875.1:g.14848C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356924.9:c.751C>T MANE Select | ENSP00000349396.4:p.Arg251Cys | |
| ENST00000356924.8:c.751C>T | ENSP00000349396.4:p.Arg251Cys | |
| ENST00000460308.6:c.*421-348C>T | ENSP00000436527.2:n.*421-348C>T | |
| ENST00000469672.5:c.*341-348C>T | ENSP00000434626.1:n.*341-348C>T | |
| ENST00000481935.5:c.*452C>T | ENSP00000436782.1:n.*452C>T | |
| ENST00000496015.5:n.144C>T | ||
| ENST00000553486.5:c.*452C>T | ENSP00000450611.1:n.*452C>T | |
| ENST00000553745.5:c.*461C>T | ENSP00000451778.1:n.*461C>T | |
| ENST00000553998.5:c.201C>T | ||
| ENST00000554453.5:c.*248C>T | ENSP00000451457.1:n.*248C>T | |
| ENST00000555617.5:c.*215-348C>T | ENSP00000451521.1:n.*215-348C>T | |
| ENST00000556119.5:c.*372C>T | ENSP00000450491.1:n.*372C>T | |
| ENST00000556971.1:c.599-348C>T | ||
| ENST00000557554.5:n.371-2718C>T | ||
| ENST00000557588.5:c.594-348C>T | ENSP00000451993.1:n.594-348C>T | |
| NM_005050.3:c.751C>T | NP_005041.1:p.Arg251Cys | |
| NR_003256.2:n.775C>T | ||
| XM_005267938.3:c.751C>T | XP_005267995.1:p.Arg251Cys | |
| XM_005267939.2:c.337C>T | XP_005267996.1:p.Arg113Cys | |
| XM_005267940.2:c.337C>T | XP_005267997.1:p.Arg113Cys | |
| XM_005267941.3:c.337C>T | XP_005267998.1:p.Arg113Cys | |
| XM_005267942.3:c.337C>T | XP_005267999.1:p.Arg113Cys | |
| XM_005267946.2:c.274C>T | XP_005268003.1:p.Arg92Cys | |
| XM_005267949.2:c.274C>T | XP_005268006.1:p.Arg92Cys | |
| XM_005267953.2:c.26-348C>T | XP_005268010.1:n.26-348C>T | |
| XM_006720223.1:c.490C>T | XP_006720286.1:p.Arg164Cys | |
| XM_011537041.1:c.478C>T | XP_011535343.1:p.Arg160Cys | |
| XM_011537042.1:c.274C>T | XP_011535344.1:p.Arg92Cys | |
| XM_011537043.1:c.26-348C>T | XP_011535345.1:n.26-348C>T | |
| XR_245710.2:n.836C>T | ||
| XR_943500.1:n.836C>T | ||
| NM_001353591.1:c.625C>T | NP_001340520.1:p.Arg209Cys | |
| NM_001353592.1:c.625C>T | NP_001340521.1:p.Arg209Cys | |
| NM_001353593.1:c.490C>T | NP_001340522.1:p.Arg164Cys | |
| NM_001353594.1:c.439C>T | NP_001340523.1:p.Arg147Cys | |
| NM_001353595.1:c.337C>T | NP_001340524.1:p.Arg113Cys | |
| NM_001353596.1:c.337C>T | NP_001340525.1:p.Arg113Cys | |
| NM_001353597.1:c.286C>T | NP_001340526.1:p.Arg96Cys | |
| NM_001353598.1:c.274C>T | NP_001340527.1:p.Arg92Cys | |
| NM_001353599.1:c.274C>T | NP_001340528.1:p.Arg92Cys | |
| NM_001353600.1:c.274C>T | NP_001340529.1:p.Arg92Cys | |
| NM_001353601.1:c.274C>T | NP_001340530.1:p.Arg92Cys | |
| NM_001353602.1:c.26-348C>T | NP_001340531.1:n.26-348C>T | |
| NM_001353603.1:c.26-348C>T | NP_001340532.1:n.26-348C>T | |
| NM_001353604.1:c.26-348C>T | NP_001340533.1:n.26-348C>T | |
| NM_001353605.1:c.26-348C>T | NP_001340534.1:n.26-348C>T | |
| NM_001353606.1:c.26-348C>T | NP_001340535.1:n.26-348C>T | |
| NM_001353607.1:c.26-348C>T | NP_001340536.1:n.26-348C>T | |
| NM_001353608.1:c.26-348C>T | NP_001340537.1:n.26-348C>T | |
| NM_001353609.1:c.26-348C>T | NP_001340538.1:n.26-348C>T | |
| NM_001353610.1:c.26-348C>T | NP_001340539.1:n.26-348C>T | |
| NM_020324.2:c.274C>T | NP_064720.1:p.Arg92Cys | |
| NM_020325.2:c.751C>T | NP_064730.1:p.Arg251Cys | |
| NR_148466.1:n.867-348C>T | ||
| NR_148467.1:n.584C>T | ||
| NR_148468.1:n.625-348C>T | ||
| NR_148469.1:n.872-348C>T | ||
| NR_148470.1:n.775C>T | ||
| NR_148471.1:n.872-348C>T | ||
| NR_148472.1:n.857C>T | ||
| NR_148473.1:n.784C>T | ||
| NR_148474.1:n.903C>T | ||
| XM_005267940.3:c.337C>T | XP_005267997.1:p.Arg113Cys | |
| XM_005267942.4:c.337C>T | XP_005267999.1:p.Arg113Cys | |
| XM_011537041.2:c.478C>T | XP_011535343.1:p.Arg160Cys | |
| XM_017021531.2:c.751C>T | XP_016877020.1:p.Arg251Cys | |
| XM_017021534.1:c.139C>T | XP_016877023.1:p.Arg47Cys | |
| XM_017021539.1:c.26-348C>T | XP_016877028.1:n.26-348C>T | |
| XM_017021540.2:c.26-348C>T | XP_016877029.1:n.26-348C>T | |
| XM_017021541.2:c.26-348C>T | XP_016877030.1:n.26-348C>T | |
| XM_017021542.1:c.26-348C>T | XP_016877031.1:n.26-348C>T | |
| XM_024449675.1:c.364C>T | XP_024305443.1:p.Arg122Cys | |
| XM_024449676.1:c.274C>T | XP_024305444.1:p.Arg92Cys | |
| XM_024449677.1:c.274C>T | XP_024305445.1:p.Arg92Cys | |
| XM_024449678.1:c.26-348C>T | XP_024305446.1:n.26-348C>T | |
| XM_024449679.1:c.26-348C>T | XP_024305447.1:n.26-348C>T | |
| XR_001750476.2:n.826C>T | ||
| XR_001750478.2:n.826C>T | ||
| XR_001750480.2:n.826C>T | ||
| XR_001750481.2:n.826C>T | ||
| XR_001750482.1:n.761C>T | ||
| XR_001750484.1:n.706C>T | ||
| XR_002957565.1:n.784-348C>T | ||
| XR_245710.4:n.826C>T | ||
| XR_943500.3:n.826C>T | ||
| NM_005050.4:c.751C>T MANE Select | NP_005041.1:p.Arg251Cys | |
| NM_001353591.2:c.625C>T | NP_001340520.1:p.Arg209Cys | |
| NM_001353592.2:c.625C>T | NP_001340521.1:p.Arg209Cys | |
| NM_001353593.2:c.490C>T | NP_001340522.1:p.Arg164Cys | |
| NM_001353594.2:c.439C>T | NP_001340523.1:p.Arg147Cys | |
| NM_001353595.2:c.337C>T | NP_001340524.1:p.Arg113Cys | |
| NM_001353596.2:c.337C>T | NP_001340525.1:p.Arg113Cys | |
| NM_001353597.2:c.286C>T | NP_001340526.1:p.Arg96Cys | |
| NM_001353598.2:c.274C>T | NP_001340527.1:p.Arg92Cys | |
| NM_001353599.2:c.274C>T | NP_001340528.1:p.Arg92Cys | |
| NM_001353600.2:c.274C>T | NP_001340529.1:p.Arg92Cys | |
| NM_001353601.2:c.274C>T | NP_001340530.1:p.Arg92Cys | |
| NM_001353602.2:c.26-348C>T | NP_001340531.1:n.26-348C>T | |
| NM_001353603.2:c.26-348C>T | NP_001340532.1:n.26-348C>T | |
| NM_001353604.2:c.26-348C>T | NP_001340533.1:n.26-348C>T | |
| NM_001353605.2:c.26-348C>T | NP_001340534.1:n.26-348C>T | |
| NM_001353606.2:c.26-348C>T | NP_001340535.1:n.26-348C>T | |
| NM_001353607.2:c.26-348C>T | NP_001340536.1:n.26-348C>T | |
| NM_001353608.2:c.26-348C>T | NP_001340537.1:n.26-348C>T | |
| NM_001353609.2:c.26-348C>T | NP_001340538.1:n.26-348C>T | |
| NM_001353610.2:c.26-348C>T | NP_001340539.1:n.26-348C>T | |
| NM_020324.3:c.274C>T | NP_064720.1:p.Arg92Cys | |
| NM_020325.3:c.751C>T | NP_064730.1:p.Arg251Cys | |
| NR_003256.3:n.645C>T | ||
| NR_148466.2:n.737-348C>T | ||
| NR_148467.2:n.454C>T | ||
| NR_148468.2:n.495-348C>T | ||
| NR_148469.2:n.742-348C>T | ||
| NR_148470.2:n.645C>T | ||
| NR_148471.2:n.742-348C>T | ||
| NR_148472.2:n.727C>T | ||
| NR_148473.2:n.654C>T | ||
| NR_148474.2:n.773C>T |