Linked Data
ClinVar Variation Id:
495120
dbSNP Id:
rs371575563
ExAC:
4:170458977 G / A
gnomAD v2:
4-170458977-G-A
gnomAD v3:
4-169537826-G-A
gnomAD v4:
4-169537826-G-A
COSMIC:
COSM5585908
PubMed:
PMID:27455347
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.169537826G>A , CM000666.2:g.169537826G>A | GRCh38 |
| NC_000004.11:g.170458977G>A , CM000666.1:g.170458977G>A | GRCh37 |
| NC_000004.10:g.170695552G>A | NCBI36 |
| NG_027982.1:g.79802C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685111.1:c.1564C>T | ENSP00000508844.1:p.Arg522Ter | |
| ENST00000685677.1:n.946C>T | ||
| ENST00000686697.1:c.1522C>T | ENSP00000508689.1:p.Arg508Ter | |
| ENST00000687054.1:n.2226C>T | ||
| ENST00000687219.1:c.*1235C>T | ENSP00000509736.1:n.*1235C>T | |
| ENST00000687528.1:c.1516C>T | ENSP00000510228.1:p.Arg506Ter | |
| ENST00000687643.1:c.1675C>T | ENSP00000509309.1:p.Arg559Ter | |
| ENST00000688934.1:c.-132-29495C>T | ENSP00000510760.1:n.-132-29495C>T | |
| ENST00000692450.1:c.*1313C>T | ENSP00000510283.1:n.*1313C>T | |
| ENST00000693085.1:c.*1475C>T | ENSP00000508746.1:n.*1475C>T | |
| ENST00000693604.1:c.*666C>T | ENSP00000509917.1:n.*666C>T | |
| ENST00000507142.6:c.1648C>T MANE Select | ENSP00000424757.2:p.Arg550Ter | |
| ENST00000439128.6:c.1648C>T | ENSP00000408020.2:p.Arg550Ter | |
| ENST00000507142.5:c.1648C>T | ENSP00000424757.1:p.Arg550Ter | |
| ENST00000510533.5:c.1516C>T | ENSP00000427653.1:p.Arg506Ter | |
| ENST00000511633.5:c.1516C>T | ENSP00000423332.1:p.Arg506Ter | |
| ENST00000512193.5:c.1441C>T | ENSP00000424938.1:p.Arg481Ter | |
| NM_001199397.1:c.1648C>T | NP_001186326.1:p.Arg550Ter | |
| NM_001199398.1:c.1516C>T | NP_001186327.1:p.Arg506Ter | |
| NM_001199399.1:c.1441C>T | NP_001186328.1:p.Arg481Ter | |
| NM_001199400.1:c.1516C>T | NP_001186329.1:p.Arg506Ter | |
| NM_012224.2:c.1648C>T | NP_036356.1:p.Arg550Ter | |
| XM_006714228.1:c.1648C>T | XP_006714291.1:p.Arg550Ter | |
| XM_011532003.1:c.1648C>T | XP_011530305.1:p.Arg550Ter | |
| XM_011532004.1:c.1516C>T | XP_011530306.1:p.Arg506Ter | |
| XM_011532005.1:c.1648C>T | XP_011530307.1:p.Arg550Ter | |
| XM_011532005.2:c.1648C>T | XP_011530307.1:p.Arg550Ter | |
| XM_017008249.1:c.1027C>T | XP_016863738.1:p.Arg343Ter | |
| XM_017008251.1:c.1027C>T | XP_016863740.1:p.Arg343Ter | |
| XM_017008252.2:c.1027C>T | XP_016863741.1:p.Arg343Ter | |
| XM_017008253.1:c.496C>T | XP_016863742.1:p.Arg166Ter | |
| XM_017008254.1:c.292C>T | XP_016863743.1:p.Arg98Ter | |
| XM_024454065.1:c.1027C>T | XP_024309833.1:p.Arg343Ter | |
| XR_001741233.1:n.2228C>T | ||
| XR_001741234.2:n.2041C>T | ||
| NM_001199397.3:c.1648C>T MANE Select | NP_001186326.1:p.Arg550Ter | |
| NM_001199398.2:c.1516C>T | NP_001186327.1:p.Arg506Ter | |
| NM_001199399.2:c.1441C>T | NP_001186328.1:p.Arg481Ter | |
| NM_001199400.2:c.1516C>T | NP_001186329.1:p.Arg506Ter | |
| NM_001374418.1:c.1648C>T | NP_001361347.1:p.Arg550Ter | |
| NM_001374419.1:c.1648C>T | NP_001361348.1:p.Arg550Ter | |
| NM_001374420.1:c.1597C>T | NP_001361349.1:p.Arg533Ter | |
| NM_001374421.1:c.1522C>T | NP_001361350.1:p.Arg508Ter | |
| NM_012224.3:c.1648C>T | NP_036356.1:p.Arg550Ter | |
| NR_164630.1:n.2194C>T | ||
| NM_001199398.3:c.1516C>T | NP_001186327.1:p.Arg506Ter | |
| NM_001199399.3:c.1441C>T | NP_001186328.1:p.Arg481Ter | |
| NM_001199400.3:c.1516C>T | NP_001186329.1:p.Arg506Ter | |
| NM_012224.4:c.1648C>T | NP_036356.1:p.Arg550Ter |