Linked Data
ClinVar Variation Id:
4673
dbSNP Id:
rs121908157
gnomAD v2:
10-14976460-G-T
gnomAD v4:
10-14934461-G-T
PubMed:
PMID:12055248
ERepo:
CA117004/MONDO:0011225/116
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.14934461G>T , CM000672.2:g.14934461G>T | GRCh38 |
| NC_000010.10:g.14976460G>T , CM000672.1:g.14976460G>T | GRCh37 |
| NC_000010.9:g.15016466G>T | NCBI36 |
| NG_007276.1:g.24635C>A , LRG_54:g.24635C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378241.6:c.*644C>A | ENSP00000367487.3:n.*644C>A | |
| ENST00000456122.2:c.*783C>A | ENSP00000413180.3:n.*783C>A | |
| ENST00000489161.2:c.*375C>A | ENSP00000513000.2:n.*375C>A | |
| ENST00000492201.6:c.597C>A | ENSP00000512999.1:p.Tyr199Ter | |
| ENST00000697047.1:c.597C>A | ENSP00000513066.1:p.Tyr199Ter | |
| ENST00000697070.1:c.597C>A | ENSP00000513085.1:p.Tyr199Ter | |
| ENST00000697071.1:c.*517C>A | ENSP00000513086.1:n.*517C>A | |
| ENST00000697072.1:c.597C>A | ENSP00000513087.1:p.Tyr199Ter | |
| ENST00000697073.1:c.*375C>A | ENSP00000513088.2:n.*375C>A | |
| ENST00000697074.1:c.*375C>A | ENSP00000513089.2:n.*375C>A | |
| ENST00000697075.1:c.597C>A | ENSP00000513090.1:p.Tyr199Ter | |
| ENST00000697076.1:c.597C>A | ENSP00000513091.1:p.Tyr199Ter | |
| ENST00000697077.1:c.*308C>A | ENSP00000513092.1:n.*308C>A | |
| ENST00000697078.1:c.*304C>A | ENSP00000513093.1:n.*304C>A | |
| ENST00000697079.1:n.301C>A | ||
| ENST00000697080.1:c.*461C>A | ENSP00000513094.1:n.*461C>A | |
| ENST00000697081.1:c.*214C>A | ENSP00000513095.1:n.*214C>A | |
| ENST00000697082.1:c.*783C>A | ENSP00000513096.1:n.*783C>A | |
| ENST00000697083.1:c.*457C>A | ENSP00000513097.1:n.*457C>A | |
| ENST00000697084.1:c.597C>A | ENSP00000513098.1:p.Tyr199Ter | |
| ENST00000697085.1:c.*364C>A | ENSP00000513099.1:n.*364C>A | |
| ENST00000697086.1:n.3034C>A | ||
| ENST00000697087.1:c.*517C>A | ENSP00000513100.1:n.*517C>A | |
| ENST00000697088.1:c.*214C>A | ENSP00000513101.1:n.*214C>A | |
| ENST00000697089.1:c.*517C>A | ENSP00000513102.1:n.*517C>A | |
| ENST00000697090.1:n.605C>A | ||
| ENST00000378278.7:c.597C>A MANE Select | ENSP00000367527.2:p.Tyr199Ter | |
| ENST00000357717.6:c.252C>A | ENSP00000350349.2:p.Tyr84Ter | |
| ENST00000378241.5:c.237C>A | ENSP00000367487.1:p.Tyr79Ter | |
| ENST00000378246.6:c.252C>A | ENSP00000367492.2:p.Tyr84Ter | |
| ENST00000378249.5:c.252C>A | ENSP00000367496.1:p.Tyr84Ter | |
| ENST00000378254.5:c.237C>A | ENSP00000367502.1:p.Tyr79Ter | |
| ENST00000378255.5:c.237C>A | ENSP00000367503.1:p.Tyr79Ter | |
| ENST00000378258.5:c.237C>A | ENSP00000367506.1:p.Tyr79Ter | |
| ENST00000378278.6:c.597C>A | ENSP00000367527.2:p.Tyr199Ter | |
| ENST00000378289.8:c.597C>A | ENSP00000367538.4:p.Tyr199Ter | |
| ENST00000396817.6:c.237C>A | ENSP00000380030.2:p.Tyr79Ter | |
| ENST00000418843.5:c.159C>A | ENSP00000391428.1:p.Tyr53Ter | |
| NM_001033855.2:c.597C>A | NP_001029027.1:p.Tyr199Ter | |
| NM_001033857.2:c.237C>A | NP_001029029.1:p.Tyr79Ter | |
| NM_001033858.2:c.237C>A | NP_001029030.1:p.Tyr79Ter | |
| NM_001289076.1:c.252C>A | NP_001276005.1:p.Tyr84Ter | |
| NM_001289077.1:c.237C>A | NP_001276006.1:p.Tyr79Ter | |
| NM_001289078.1:c.252C>A | NP_001276007.1:p.Tyr84Ter | |
| NM_001289079.1:c.237C>A | NP_001276008.1:p.Tyr79Ter | |
| NM_022487.3:c.252C>A | NP_071932.2:p.Tyr84Ter | |
| NR_110297.1:n.1231C>A | ||
| XM_006717491.2:c.252C>A | XP_006717554.1:p.Tyr84Ter | |
| XM_011519616.1:c.252C>A | XP_011517918.1:p.Tyr84Ter | |
| XM_011519617.1:c.252C>A | XP_011517919.1:p.Tyr84Ter | |
| XM_011519618.1:c.252C>A | XP_011517920.1:p.Tyr84Ter | |
| XM_011519619.1:c.237C>A | XP_011517921.1:p.Tyr79Ter | |
| XM_011519620.1:c.597C>A | XP_011517922.1:p.Tyr199Ter | |
| XM_011519621.1:c.597C>A | XP_011517923.1:p.Tyr199Ter | |
| XR_242702.2:n.694C>A | ||
| XR_930514.1:n.694C>A | ||
| XR_930515.1:n.694C>A | ||
| NM_001350965.1:c.597C>A | NP_001337894.1:p.Tyr199Ter | |
| NM_001350966.1:c.252C>A | NP_001337895.1:p.Tyr84Ter | |
| NM_001350967.1:c.237C>A | NP_001337896.1:p.Tyr79Ter | |
| NR_146960.1:n.1019C>A | ||
| NR_146961.1:n.1048C>A | ||
| NR_146962.1:n.1019C>A | ||
| XM_006717491.4:c.252C>A | XP_006717554.1:p.Tyr84Ter | |
| XM_011519620.3:c.597C>A | XP_011517922.1:p.Tyr199Ter | |
| XM_011519621.2:c.597C>A | XP_011517923.1:p.Tyr199Ter | |
| XM_017016557.1:c.252C>A | XP_016872046.1:p.Tyr84Ter | |
| XM_017016558.1:c.237C>A | XP_016872047.1:p.Tyr79Ter | |
| XM_024448134.1:c.237C>A | XP_024303902.1:p.Tyr79Ter | |
| XM_024448135.1:c.252C>A | XP_024303903.1:p.Tyr84Ter | |
| XR_001747185.2:n.941C>A | ||
| XR_001747187.1:n.577C>A | ||
| XR_930515.2:n.941C>A | ||
| NM_001033855.3:c.597C>A MANE Select | NP_001029027.1:p.Tyr199Ter | |
| NM_001033857.3:c.237C>A | NP_001029029.1:p.Tyr79Ter | |
| NM_001033858.3:c.237C>A | NP_001029030.1:p.Tyr79Ter | |
| NM_001289076.2:c.252C>A | NP_001276005.1:p.Tyr84Ter | |
| NM_001289077.2:c.237C>A | NP_001276006.1:p.Tyr79Ter | |
| NM_001289078.2:c.252C>A | NP_001276007.1:p.Tyr84Ter | |
| NM_001289079.2:c.237C>A | NP_001276008.1:p.Tyr79Ter | |
| NM_001350965.2:c.597C>A | NP_001337894.1:p.Tyr199Ter | |
| NM_001350966.2:c.252C>A | NP_001337895.1:p.Tyr84Ter | |
| NM_001350967.2:c.237C>A | NP_001337896.1:p.Tyr79Ter | |
| NM_022487.4:c.252C>A | NP_071932.2:p.Tyr84Ter | |
| NR_110297.2:n.895C>A | ||
| NR_146961.2:n.712C>A |