Linked Data
ClinVar Variation Id:
1223618
ClinVar RCV Id:
RCV001596412
dbSNP Id:
rs190989715
gnomAD v2:
2-32314474-A-T
gnomAD v3:
2-32089405-A-T
gnomAD v4:
2-32089405-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32089405A>T , CM000664.2:g.32089405A>T | GRCh38 |
| NC_000002.11:g.32314474A>T , CM000664.1:g.32314474A>T | GRCh37 |
| NC_000002.10:g.32167978A>T | NCBI36 |
| NG_008730.1:g.30795A>T , LRG_714:g.30795A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704289.1:c.*163-117A>T | ENSP00000515816.1:n.*163-117A>T | |
| ENST00000315285.9:c.503-117A>T MANE Select | ENSP00000320885.3:n.503-117A>T | |
| ENST00000621856.2:c.500-117A>T | ENSP00000482496.2:n.500-117A>T | |
| ENST00000642281.1:c.387-117A>T | ||
| ENST00000642455.1:c.500-117A>T | ENSP00000493827.1:n.500-117A>T | |
| ENST00000642751.1:c.373-117A>T | ||
| ENST00000642999.1:c.245-117A>T | ENSP00000496589.1:n.245-117A>T | |
| ENST00000643334.1:c.88-117A>T | ||
| ENST00000644408.1:c.379-117A>T | ||
| ENST00000644954.1:c.245-117A>T | ENSP00000494312.1:n.245-117A>T | |
| ENST00000645400.1:c.459-117A>T | ENSP00000496306.1:n.459-117A>T | |
| ENST00000645671.1:c.37-9391A>T | ||
| ENST00000646082.1:c.337-117A>T | ||
| ENST00000646571.1:c.503-117A>T | ENSP00000495015.1:n.503-117A>T | |
| ENST00000647007.1:n.200-117A>T | ||
| ENST00000647133.1:c.78-117A>T | ||
| ENST00000315285.7:c.503-117A>T | ENSP00000320885.3:n.503-117A>T | |
| ENST00000345662.5:c.503-117A>T | ENSP00000340817.1:n.503-117A>T | |
| ENST00000615843.4:c.503-117A>T | ENSP00000480893.1:n.503-117A>T | |
| ENST00000621856.1:c.245-117A>T | ENSP00000482496.1:n.245-117A>T | |
| NM_014946.3:c.503-117A>T , LRG_714t1:c.503-117A>T | NP_055761.2:n.503-117A>T | |
| NM_199436.1:c.503-117A>T | NP_955468.1:n.503-117A>T | |
| XM_005264516.3:c.500-117A>T | XP_005264573.1:n.500-117A>T | |
| XM_011533067.1:c.503-117A>T | XP_011531369.1:n.503-117A>T | |
| NM_001363823.1:c.500-117A>T | NP_001350752.1:n.500-117A>T | |
| NM_001363875.1:c.500-117A>T | NP_001350804.1:n.500-117A>T | |
| XM_005264516.5:c.500-117A>T | XP_005264573.1:n.500-117A>T | |
| XM_011533067.2:c.503-117A>T | XP_011531369.1:n.503-117A>T | |
| XM_017004778.2:c.503-117A>T | XP_016860267.1:n.503-117A>T | |
| NM_001363823.2:c.500-117A>T | NP_001350752.1:n.500-117A>T | |
| NM_001363875.2:c.500-117A>T | NP_001350804.1:n.500-117A>T | |
| NM_001377959.1:c.503-117A>T | NP_001364888.1:n.503-117A>T | |
| NM_014946.4:c.503-117A>T MANE Select | NP_055761.2:n.503-117A>T | |
| NM_199436.2:c.503-117A>T | NP_955468.1:n.503-117A>T |