Linked Data
ClinVar Variation Id:
5666
ClinVar RCV Id:
RCV003225018
dbSNP Id:
rs587777755
PubMed:
PMID:11309678
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32128483A>G , CM000664.2:g.32128483A>G | GRCh38 |
| NC_000002.11:g.32353552A>G , CM000664.1:g.32353552A>G | GRCh37 |
| NC_000002.10:g.32207056A>G | NCBI36 |
| NG_008730.1:g.69873A>G , LRG_714:g.69873A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000704289.1:c.*905+4A>G | ENSP00000515816.1:n.*905+4A>G | |
| ENST00000315285.9:c.1245+4A>G MANE Select | ENSP00000320885.3:n.1245+4A>G | |
| ENST00000621856.2:c.1242+4A>G | ENSP00000482496.2:n.1242+4A>G | |
| ENST00000642281.1:c.983-8080A>G | ||
| ENST00000642455.1:c.1146+4A>G | ENSP00000493827.1:n.1146+4A>G | |
| ENST00000642751.1:c.1019+4A>G | ||
| ENST00000642999.1:c.987+4A>G | ENSP00000496589.1:n.987+4A>G | |
| ENST00000643327.1:c.404+4A>G | ||
| ENST00000643334.1:c.825+4A>G | ||
| ENST00000644408.1:c.1121+4A>G | ||
| ENST00000644954.1:c.891+4A>G | ENSP00000494312.1:n.891+4A>G | |
| ENST00000645159.1:n.1982+4A>G | ||
| ENST00000645550.1:n.462A>G | ||
| ENST00000645671.1:c.695+4A>G | ||
| ENST00000645730.1:c.592+4A>G | ||
| ENST00000646082.1:c.891+4A>G | ||
| ENST00000646571.1:c.1149+4A>G | ENSP00000495015.1:n.1149+4A>G | |
| ENST00000647007.1:n.937+4A>G | ||
| ENST00000647133.1:c.745+4A>G | ||
| ENST00000315285.7:c.1245+4A>G | ENSP00000320885.3:n.1245+4A>G | |
| ENST00000345662.5:c.1149+4A>G | ENSP00000340817.1:n.1149+4A>G | |
| ENST00000615843.4:c.1245+4A>G | ENSP00000480893.1:n.1245+4A>G | |
| ENST00000621856.1:c.987+4A>G | ENSP00000482496.1:n.987+4A>G | |
| NM_014946.3:c.1245+4A>G , LRG_714t1:c.1245+4A>G | NP_055761.2:n.1245+4A>G | |
| NM_199436.1:c.1149+4A>G | NP_955468.1:n.1149+4A>G | |
| XM_005264516.3:c.1242+4A>G | XP_005264573.1:n.1242+4A>G | |
| XM_011533067.1:c.1245+4A>G | XP_011531369.1:n.1245+4A>G | |
| NM_001363823.1:c.1242+4A>G | NP_001350752.1:n.1242+4A>G | |
| NM_001363875.1:c.1146+4A>G | NP_001350804.1:n.1146+4A>G | |
| XM_005264516.5:c.1242+4A>G | XP_005264573.1:n.1242+4A>G | |
| XM_011533067.2:c.1245+4A>G | XP_011531369.1:n.1245+4A>G | |
| XM_017004778.2:c.1149+4A>G | XP_016860267.1:n.1149+4A>G | |
| NM_001363823.2:c.1242+4A>G | NP_001350752.1:n.1242+4A>G | |
| NM_001363875.2:c.1146+4A>G | NP_001350804.1:n.1146+4A>G | |
| NM_001377959.1:c.1149+4A>G | NP_001364888.1:n.1149+4A>G | |
| NM_014946.4:c.1245+4A>G MANE Select | NP_055761.2:n.1245+4A>G | |
| NM_199436.2:c.1149+4A>G | NP_955468.1:n.1149+4A>G |