Linked Data
ClinVar Variation Id:
5675
dbSNP Id:
rs587777757
gnomAD v4:
2-32128450-A-G
PubMed:
PMID:16476945
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32128450A>G , CM000664.2:g.32128450A>G | GRCh38 |
| NC_000002.11:g.32353519A>G , CM000664.1:g.32353519A>G | GRCh37 |
| NC_000002.10:g.32207023A>G | NCBI36 |
| NG_008730.1:g.69840A>G , LRG_714:g.69840A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704289.1:c.*876A>G | ENSP00000515816.1:n.*876A>G | |
| ENST00000315285.9:c.1216A>G MANE Select | ENSP00000320885.3:p.Ile406Val | |
| ENST00000621856.2:c.1213A>G | ENSP00000482496.2:p.Ile405Val | |
| ENST00000642281.1:c.983-8113A>G | ||
| ENST00000642455.1:c.1117A>G | ENSP00000493827.1:p.Ile373Val | |
| ENST00000642751.1:c.990A>G | ||
| ENST00000642999.1:c.958A>G | ENSP00000496589.1:p.Ile320Val | |
| ENST00000643327.1:c.375A>G | ||
| ENST00000643334.1:c.796A>G | ||
| ENST00000644408.1:c.1092A>G | ||
| ENST00000644954.1:c.862A>G | ENSP00000494312.1:p.Ile288Val | |
| ENST00000645159.1:n.1953A>G | ||
| ENST00000645550.1:n.429A>G | ||
| ENST00000645671.1:c.666A>G | ||
| ENST00000645730.1:c.563A>G | ||
| ENST00000646082.1:c.862A>G | ||
| ENST00000646571.1:c.1120A>G | ENSP00000495015.1:p.Ile374Val | |
| ENST00000647007.1:n.908A>G | ||
| ENST00000647133.1:c.716A>G | ||
| ENST00000315285.7:c.1216A>G | ENSP00000320885.3:p.Ile406Val | |
| ENST00000345662.5:c.1120A>G | ENSP00000340817.1:p.Ile374Val | |
| ENST00000615843.4:c.1216A>G | ENSP00000480893.1:p.Ile406Val | |
| ENST00000621856.1:c.958A>G | ENSP00000482496.1:p.Ile320Val | |
| NM_014946.3:c.1216A>G , LRG_714t1:c.1216A>G | NP_055761.2:p.Ile406Val | |
| NM_199436.1:c.1120A>G | NP_955468.1:p.Ile374Val | |
| XM_005264516.3:c.1213A>G | XP_005264573.1:p.Ile405Val | |
| XM_011533067.1:c.1216A>G | XP_011531369.1:p.Ile406Val | |
| NM_001363823.1:c.1213A>G | NP_001350752.1:p.Ile405Val | |
| NM_001363875.1:c.1117A>G | NP_001350804.1:p.Ile373Val | |
| XM_005264516.5:c.1213A>G | XP_005264573.1:p.Ile405Val | |
| XM_011533067.2:c.1216A>G | XP_011531369.1:p.Ile406Val | |
| XM_017004778.2:c.1120A>G | XP_016860267.1:p.Ile374Val | |
| NM_001363823.2:c.1213A>G | NP_001350752.1:p.Ile405Val | |
| NM_001363875.2:c.1117A>G | NP_001350804.1:p.Ile373Val | |
| NM_001377959.1:c.1120A>G | NP_001364888.1:p.Ile374Val | |
| NM_014946.4:c.1216A>G MANE Select | NP_055761.2:p.Ile406Val | |
| NM_199436.2:c.1120A>G | NP_955468.1:p.Ile374Val |