Linked Data
ClinVar Variation Id:
226113
dbSNP Id:
rs875989878
gnomAD v3:
2-32128480-G-A
gnomAD v4:
2-32128480-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32128480G>A , CM000664.2:g.32128480G>A | GRCh38 |
| NC_000002.11:g.32353549G>A , CM000664.1:g.32353549G>A | GRCh37 |
| NC_000002.10:g.32207053G>A | NCBI36 |
| NG_008730.1:g.69870G>A , LRG_714:g.69870G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704289.1:c.*905+1G>A | ENSP00000515816.1:n.*905+1G>A | |
| ENST00000315285.9:c.1245+1G>A MANE Select | ENSP00000320885.3:n.1245+1G>A | |
| ENST00000621856.2:c.1242+1G>A | ENSP00000482496.2:n.1242+1G>A | |
| ENST00000642281.1:c.983-8083G>A | ||
| ENST00000642455.1:c.1146+1G>A | ENSP00000493827.1:n.1146+1G>A | |
| ENST00000642751.1:c.1019+1G>A | ||
| ENST00000642999.1:c.987+1G>A | ENSP00000496589.1:n.987+1G>A | |
| ENST00000643327.1:c.404+1G>A | ||
| ENST00000643334.1:c.825+1G>A | ||
| ENST00000644408.1:c.1121+1G>A | ||
| ENST00000644954.1:c.891+1G>A | ENSP00000494312.1:n.891+1G>A | |
| ENST00000645159.1:n.1982+1G>A | ||
| ENST00000645550.1:n.459G>A | ||
| ENST00000645671.1:c.695+1G>A | ||
| ENST00000645730.1:c.592+1G>A | ||
| ENST00000646082.1:c.891+1G>A | ||
| ENST00000646571.1:c.1149+1G>A | ENSP00000495015.1:n.1149+1G>A | |
| ENST00000647007.1:n.937+1G>A | ||
| ENST00000647133.1:c.745+1G>A | ||
| ENST00000315285.7:c.1245+1G>A | ENSP00000320885.3:n.1245+1G>A | |
| ENST00000345662.5:c.1149+1G>A | ENSP00000340817.1:n.1149+1G>A | |
| ENST00000615843.4:c.1245+1G>A | ENSP00000480893.1:n.1245+1G>A | |
| ENST00000621856.1:c.987+1G>A | ENSP00000482496.1:n.987+1G>A | |
| NM_014946.3:c.1245+1G>A , LRG_714t1:c.1245+1G>A | NP_055761.2:n.1245+1G>A | |
| NM_199436.1:c.1149+1G>A | NP_955468.1:n.1149+1G>A | |
| XM_005264516.3:c.1242+1G>A | XP_005264573.1:n.1242+1G>A | |
| XM_011533067.1:c.1245+1G>A | XP_011531369.1:n.1245+1G>A | |
| NM_001363823.1:c.1242+1G>A | NP_001350752.1:n.1242+1G>A | |
| NM_001363875.1:c.1146+1G>A | NP_001350804.1:n.1146+1G>A | |
| XM_005264516.5:c.1242+1G>A | XP_005264573.1:n.1242+1G>A | |
| XM_011533067.2:c.1245+1G>A | XP_011531369.1:n.1245+1G>A | |
| XM_017004778.2:c.1149+1G>A | XP_016860267.1:n.1149+1G>A | |
| NM_001363823.2:c.1242+1G>A | NP_001350752.1:n.1242+1G>A | |
| NM_001363875.2:c.1146+1G>A | NP_001350804.1:n.1146+1G>A | |
| NM_001377959.1:c.1149+1G>A | NP_001364888.1:n.1149+1G>A | |
| NM_014946.4:c.1245+1G>A MANE Select | NP_055761.2:n.1245+1G>A | |
| NM_199436.2:c.1149+1G>A | NP_955468.1:n.1149+1G>A |