Linked Data
ClinVar Variation Id:
4744
ClinVar RCV Id:
RCV000005010
dbSNP Id:
rs916977
gnomAD v2:
15-28513364-T-C
gnomAD v3:
15-28268218-T-C
gnomAD v4:
15-28268218-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.28268218T>C , CM000677.2:g.28268218T>C | GRCh38 |
| NC_000015.9:g.28513364T>C , CM000677.1:g.28513364T>C | GRCh37 |
| NC_000015.8:g.26186959T>C | NCBI36 |
| NG_016355.1:g.58932A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261609.13:c.1598+247A>G MANE Select | ENSP00000261609.8:n.1598+247A>G | |
| ENST00000261609.11:c.1598+247A>G | ENSP00000261609.7:n.1598+247A>G | |
| ENST00000564734.5:c.*1468+247A>G | ENSP00000456237.1:n.*1468+247A>G | |
| NM_004667.5:c.1598+247A>G | NP_004658.3:n.1598+247A>G | |
| XM_005268276.3:c.1484+247A>G | XP_005268333.1:n.1484+247A>G | |
| XM_005268277.3:c.1484+247A>G | XP_005268334.1:n.1484+247A>G | |
| XM_006720726.2:c.1598+247A>G | XP_006720789.1:n.1598+247A>G | |
| XM_006720727.2:c.1340+247A>G | XP_006720790.1:n.1340+247A>G | |
| XM_011522131.1:c.1115+247A>G | XP_011520433.1:n.1115+247A>G | |
| XM_011522132.1:c.107+3997A>G | XP_011520434.1:n.107+3997A>G | |
| XM_011522133.1:c.322+24670A>G | XP_011520435.1:n.322+24670A>G | |
| XM_011522135.1:c.1598+247A>G | XP_011520437.1:n.1598+247A>G | |
| XM_011522136.1:c.1598+247A>G | XP_011520438.1:n.1598+247A>G | |
| XM_011522137.1:c.1598+247A>G | XP_011520439.1:n.1598+247A>G | |
| XR_931930.1:n.1727+247A>G | ||
| XR_931931.1:n.1727+247A>G | ||
| XM_005268276.5:c.1484+247A>G | XP_005268333.1:n.1484+247A>G | |
| XM_006720726.3:c.1598+247A>G | XP_006720789.1:n.1598+247A>G | |
| XM_006720727.3:c.1340+247A>G | XP_006720790.1:n.1340+247A>G | |
| XM_017022695.1:c.1484+247A>G | XP_016878184.1:n.1484+247A>G | |
| XM_017022696.1:c.1484+247A>G | XP_016878185.1:n.1484+247A>G | |
| XR_001751410.1:n.1728+247A>G | ||
| XR_931930.2:n.1728+247A>G | ||
| NM_004667.6:c.1598+247A>G MANE Select | NP_004658.3:n.1598+247A>G |