Linked Data
ClinVar Variation Id:
520764
dbSNP Id:
rs781752990
ExAC:
15:90195832 A / C
gnomAD v2:
15-90195832-A-C
gnomAD v3:
15-89652601-A-C
gnomAD v4:
15-89652601-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89652601A>C , CM000677.2:g.89652601A>C | GRCh38 |
| NC_000015.9:g.90195832A>C , CM000677.1:g.90195832A>C | GRCh37 |
| NC_000015.8:g.87996836A>C | NCBI36 |
| NG_030338.1:g.7851T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696512.1:c.451+2T>G | ENSP00000512678.1:n.451+2T>G | |
| ENST00000394412.8:c.328+2T>G MANE Select | ENSP00000377934.3:n.328+2T>G | |
| ENST00000394412.7:c.328+2T>G | ENSP00000377934.3:n.328+2T>G | |
| ENST00000445906.1:c.328+2T>G | ENSP00000395906.1:n.328+2T>G | |
| NM_198525.2:c.328+2T>G | NP_940927.2:n.328+2T>G | |
| XM_005254902.2:c.328+2T>G | XP_005254959.1:n.328+2T>G | |
| XM_011521531.1:c.451+2T>G | XP_011519833.1:n.451+2T>G | |
| XM_011521532.1:c.451+2T>G | XP_011519834.1:n.451+2T>G | |
| XM_011521533.1:c.451+2T>G | XP_011519835.1:n.451+2T>G | |
| XM_011521534.1:c.451+2T>G | XP_011519836.1:n.451+2T>G | |
| XM_011521535.1:c.451+2T>G | XP_011519837.1:n.451+2T>G | |
| XM_011521536.1:c.451+2T>G | XP_011519838.1:n.451+2T>G | |
| XM_011521537.1:c.451+2T>G | XP_011519839.1:n.451+2T>G | |
| XM_011521531.2:c.451+2T>G | XP_011519833.1:n.451+2T>G | |
| NM_198525.3:c.328+2T>G MANE Select | NP_940927.2:n.328+2T>G |