Linked Data
ClinVar Variation Id:
243000
ClinVar RCV Id:
RCV000234975
dbSNP Id:
rs879253779
gnomAD v4:
1-184072258-A-G
COSMIC:
COSM5495763
PubMed:
PMID:27392077
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.184072258A>G , CM000663.2:g.184072258A>G | GRCh38 |
| NC_000001.10:g.184041392A>G , CM000663.1:g.184041392A>G | GRCh37 |
| NC_000001.9:g.182308015A>G | NCBI36 |
| NG_050569.1:g.25608A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361641.6:c.455A>G | ENSP00000355299.2:p.Tyr152Cys | |
| ENST00000423085.7:c.354-569A>G | ENSP00000402002.2:n.354-569A>G | |
| ENST00000462677.3:c.572A>G | ENSP00000432397.2:n.572A>G | |
| ENST00000485209.6:c.*175A>G | ENSP00000435144.1:n.*175A>G | |
| ENST00000533373.6:c.391+64A>G | ENSP00000436996.1:n.391+64A>G | |
| ENST00000643231.1:c.353+17395A>G | ENSP00000494932.1:n.353+17395A>G | |
| ENST00000643702.1:c.281A>G | ||
| ENST00000643916.1:c.*115+17395A>G | ENSP00000494533.1:n.*115+17395A>G | |
| ENST00000644145.1:c.*307A>G | ENSP00000494455.1:n.*307A>G | |
| ENST00000644479.1:c.572A>G | ENSP00000496242.1:n.572A>G | |
| ENST00000644592.1:c.353+17395A>G | ENSP00000495621.1:n.353+17395A>G | |
| ENST00000644815.1:c.244+17395A>G | ||
| ENST00000645668.2:c.455A>G MANE Select | ENSP00000493902.2:p.Tyr152Cys | |
| ENST00000645963.2:c.353+17395A>G | ENSP00000495409.2:n.353+17395A>G | |
| ENST00000646297.2:c.*74+64A>G | ENSP00000496688.2:n.*74+64A>G | |
| ENST00000647437.1:c.455A>G | ENSP00000495178.1:p.Tyr152Cys | |
| ENST00000647465.1:c.353+17395A>G | ENSP00000495344.1:n.353+17395A>G | |
| ENST00000361641.5:c.455A>G | ENSP00000355299.1:p.Tyr152Cys | |
| ENST00000423085.6:c.354-569A>G | ENSP00000402002.2:n.354-569A>G | |
| ENST00000462677.2:c.568A>G | ||
| ENST00000485209.5:c.*175A>G | ENSP00000435144.1:n.*175A>G | |
| ENST00000533373.5:c.391+64A>G | ENSP00000436996.1:n.391+64A>G | |
| NM_001127394.3:c.354-569A>G | NP_001120866.1:n.354-569A>G | |
| NM_001300764.1:c.455A>G | NP_001287693.1:p.Tyr152Cys | |
| NM_001300766.1:c.391+64A>G | NP_001287695.1:n.391+64A>G | |
| NM_052965.3:c.455A>G | NP_443197.1:p.Tyr152Cys | |
| NR_023349.2:n.677A>G | ||
| NR_125335.1:n.640A>G | ||
| XM_006711148.1:c.455A>G | XP_006711211.1:p.Tyr152Cys | |
| XM_011509139.1:c.353+17395A>G | XP_011507441.1:n.353+17395A>G | |
| NM_001363643.1:c.353+17395A>G | NP_001350572.1:n.353+17395A>G | |
| XM_006711148.2:c.455A>G | XP_006711211.1:p.Tyr152Cys | |
| XM_011509139.3:c.353+17395A>G | XP_011507441.1:n.353+17395A>G | |
| XM_017000228.2:c.353+17395A>G | XP_016855717.1:n.353+17395A>G | |
| XM_017000229.2:c.353+17395A>G | XP_016855718.1:n.353+17395A>G | |
| XM_017000230.2:c.353+17395A>G | XP_016855719.1:n.353+17395A>G | |
| NM_001127394.4:c.354-569A>G | NP_001120866.1:n.354-569A>G | |
| NM_001300764.2:c.455A>G | NP_001287693.1:p.Tyr152Cys | |
| NM_001300766.2:c.391+64A>G | NP_001287695.1:n.391+64A>G | |
| NM_001363643.2:c.353+17395A>G | NP_001350572.1:n.353+17395A>G | |
| NM_052965.4:c.455A>G MANE Select | NP_443197.1:p.Tyr152Cys | |
| NR_023349.3:n.598A>G | ||
| NR_125335.2:n.561A>G |