Linked Data
ClinVar Variation Id:
4665
dbSNP Id:
rs121908156
ExAC:
10:14987109 G / A
gnomAD v2:
10-14987109-G-A
gnomAD v3:
10-14945110-G-A
gnomAD v4:
10-14945110-G-A
MyVariant Identifiers:
chr10:g.14987109G>A (hg19)
chr10:g.14987109_14987110delinsAT (hg19)
chr10:g.14945110G>A (hg38)
ERepo:
CA117001/MONDO:0011225/116
PubMed:
PMID:11336668
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.14945110G>A , CM000672.2:g.14945110G>A | GRCh38 |
| NC_000010.10:g.14987109G>A , CM000672.1:g.14987109G>A | GRCh37 |
| NC_000010.9:g.15027115G>A | NCBI36 |
| NG_007276.1:g.13986C>T , LRG_54:g.13986C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378241.6:c.*161C>T | ENSP00000367487.3:n.*161C>T | |
| ENST00000456122.2:c.*161C>T | ENSP00000413180.3:n.*161C>T | |
| ENST00000489161.2:c.*75C>T | ENSP00000513000.2:n.*75C>T | |
| ENST00000492201.6:c.241C>T | ENSP00000512999.1:p.Arg81Ter | |
| ENST00000697047.1:c.241C>T | ENSP00000513066.1:p.Arg81Ter | |
| ENST00000697070.1:c.241C>T | ENSP00000513085.1:p.Arg81Ter | |
| ENST00000697071.1:c.*161C>T | ENSP00000513086.1:n.*161C>T | |
| ENST00000697072.1:c.241C>T | ENSP00000513087.1:p.Arg81Ter | |
| ENST00000697073.1:c.*75C>T | ENSP00000513088.2:n.*75C>T | |
| ENST00000697074.1:c.*75C>T | ENSP00000513089.2:n.*75C>T | |
| ENST00000697075.1:c.241C>T | ENSP00000513090.1:p.Arg81Ter | |
| ENST00000697076.1:c.241C>T | ENSP00000513091.1:p.Arg81Ter | |
| ENST00000697077.1:c.241C>T | ENSP00000513092.1:p.Arg81Ter | |
| ENST00000697078.1:c.241C>T | ENSP00000513093.1:p.Arg81Ter | |
| ENST00000697079.1:n.61C>T | ||
| ENST00000697080.1:c.*161C>T | ENSP00000513094.1:n.*161C>T | |
| ENST00000697081.1:c.241C>T | ENSP00000513095.1:p.Arg81Ter | |
| ENST00000697082.1:c.*161C>T | ENSP00000513096.1:n.*161C>T | |
| ENST00000697083.1:c.*161C>T | ENSP00000513097.1:n.*161C>T | |
| ENST00000697084.1:c.241C>T | ENSP00000513098.1:p.Arg81Ter | |
| ENST00000697085.1:c.241C>T | ENSP00000513099.1:p.Arg81Ter | |
| ENST00000697086.1:n.2678C>T | ||
| ENST00000697087.1:c.*161C>T | ENSP00000513100.1:n.*161C>T | |
| ENST00000697088.1:c.241C>T | ENSP00000513101.1:p.Arg81Ter | |
| ENST00000697089.1:c.*161C>T | ENSP00000513102.1:n.*161C>T | |
| ENST00000697090.1:n.249C>T | ||
| ENST00000697091.1:n.302C>T | ||
| ENST00000378278.7:c.241C>T MANE Select | ENSP00000367527.2:p.Arg81Ter | |
| ENST00000357717.6:c.-44+3926C>T | ENSP00000350349.2:n.-44+3926C>T | |
| ENST00000378241.5:c.-247C>T | ENSP00000367487.1:n.-247C>T | |
| ENST00000378246.6:c.-49C>T | ENSP00000367492.2:n.-49C>T | |
| ENST00000378249.5:c.-49C>T | ENSP00000367496.1:n.-49C>T | |
| ENST00000378254.5:c.-120C>T | ENSP00000367502.1:n.-120C>T | |
| ENST00000378255.5:c.-442C>T | ENSP00000367503.1:n.-442C>T | |
| ENST00000378258.5:c.-120C>T | ENSP00000367506.1:n.-120C>T | |
| ENST00000378278.6:c.241C>T | ENSP00000367527.2:p.Arg81Ter | |
| ENST00000378289.8:c.241C>T | ENSP00000367538.4:p.Arg81Ter | |
| ENST00000396817.6:c.-442C>T | ENSP00000380030.2:n.-442C>T | |
| ENST00000418843.5:c.-157C>T | ENSP00000391428.1:n.-157C>T | |
| ENST00000456122.1:c.-371C>T | ENSP00000413180.1:n.-371C>T | |
| NM_001033855.2:c.241C>T | NP_001029027.1:p.Arg81Ter | |
| NM_001033857.2:c.-120C>T | NP_001029029.1:n.-120C>T | |
| NM_001033858.2:c.-442C>T | NP_001029030.1:n.-442C>T | |
| NM_001289076.1:c.-44+3926C>T | NP_001276005.1:n.-44+3926C>T | |
| NM_001289077.1:c.-120C>T | NP_001276006.1:n.-120C>T | |
| NM_001289078.1:c.-49C>T | NP_001276007.1:n.-49C>T | |
| NM_001289079.1:c.-442C>T | NP_001276008.1:n.-442C>T | |
| NM_022487.3:c.-49C>T | NP_071932.2:n.-49C>T | |
| NR_110297.1:n.748C>T | ||
| XM_006717491.2:c.-49C>T | XP_006717554.1:n.-49C>T | |
| XM_011519616.1:c.-49C>T | XP_011517918.1:n.-49C>T | |
| XM_011519617.1:c.-49C>T | XP_011517919.1:n.-49C>T | |
| XM_011519618.1:c.-176C>T | XP_011517920.1:n.-176C>T | |
| XM_011519619.1:c.-120C>T | XP_011517921.1:n.-120C>T | |
| XM_011519620.1:c.241C>T | XP_011517922.1:p.Arg81Ter | |
| XM_011519621.1:c.241C>T | XP_011517923.1:p.Arg81Ter | |
| XR_242702.2:n.338C>T | ||
| XR_930514.1:n.338C>T | ||
| XR_930515.1:n.338C>T | ||
| NM_001350965.1:c.241C>T | NP_001337894.1:p.Arg81Ter | |
| NM_001350966.1:c.-49C>T | NP_001337895.1:n.-49C>T | |
| NM_001350967.1:c.-120C>T | NP_001337896.1:n.-120C>T | |
| NR_146960.1:n.663C>T | ||
| NR_146961.1:n.748C>T | ||
| NR_146962.1:n.663C>T | ||
| XM_006717491.4:c.-49C>T | XP_006717554.1:n.-49C>T | |
| XM_011519620.3:c.241C>T | XP_011517922.1:p.Arg81Ter | |
| XM_011519621.2:c.241C>T | XP_011517923.1:p.Arg81Ter | |
| XM_017016557.1:c.-176C>T | XP_016872046.1:n.-176C>T | |
| XM_017016558.1:c.-247C>T | XP_016872047.1:n.-247C>T | |
| XM_024448134.1:c.-120C>T | XP_024303902.1:n.-120C>T | |
| XM_024448135.1:c.-49C>T | XP_024303903.1:n.-49C>T | |
| XR_001747185.2:n.585C>T | ||
| XR_001747187.1:n.277C>T | ||
| XR_930515.2:n.585C>T | ||
| NM_001033855.3:c.241C>T MANE Select | NP_001029027.1:p.Arg81Ter | |
| NM_001033857.3:c.-120C>T | NP_001029029.1:n.-120C>T | |
| NM_001033858.3:c.-442C>T | NP_001029030.1:n.-442C>T | |
| NM_001289076.2:c.-44+3926C>T | NP_001276005.1:n.-44+3926C>T | |
| NM_001289077.2:c.-120C>T | NP_001276006.1:n.-120C>T | |
| NM_001289078.2:c.-49C>T | NP_001276007.1:n.-49C>T | |
| NM_001289079.2:c.-442C>T | NP_001276008.1:n.-442C>T | |
| NM_001350965.2:c.241C>T | NP_001337894.1:p.Arg81Ter | |
| NM_001350966.2:c.-49C>T | NP_001337895.1:n.-49C>T | |
| NM_001350967.2:c.-120C>T | NP_001337896.1:n.-120C>T | |
| NM_022487.4:c.-49C>T | NP_071932.2:n.-49C>T | |
| NR_110297.2:n.412C>T | ||
| NR_146961.2:n.412C>T |