Linked Data
ClinVar Variation Id:
387806
dbSNP Id:
rs763112832
ExAC:
15:42682308 C / T
gnomAD v2:
15-42682308-C-T
gnomAD v3:
15-42390110-C-T
gnomAD v4:
15-42390110-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42390110C>T , CM000677.2:g.42390110C>T | GRCh38 |
| NC_000015.9:g.42682308C>T , CM000677.1:g.42682308C>T | GRCh37 |
| NC_000015.8:g.40469600C>T | NCBI36 |
| NG_008660.1:g.47008C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349748.8:c.801+1014C>T | ENSP00000183936.4:n.801+1014C>T | |
| ENST00000357568.8:c.945+14C>T | ENSP00000350181.3:n.945+14C>T | |
| ENST00000397163.8:c.945+14C>T MANE Select | ENSP00000380349.3:n.945+14C>T | |
| ENST00000466369.5:n.1454+14C>T | ||
| ENST00000483208.5:n.1176+14C>T | ||
| ENST00000495723.1:n.1176+14C>T | ||
| ENST00000549793.5:n.1176+14C>T | ||
| ENST00000638141.2:n.816+1014C>T | ||
| ENST00000673705.1:c.70+5558C>T | ENSP00000501021.1:n.70+5558C>T | |
| ENST00000318023.11:c.801+1014C>T | ENSP00000326281.8:n.801+1014C>T | |
| ENST00000349748.7:c.801+1014C>T | ENSP00000183936.4:n.801+1014C>T | |
| ENST00000357568.7:c.945+14C>T | ENSP00000350181.3:n.945+14C>T | |
| ENST00000397163.7:c.945+14C>T | ENSP00000380349.3:n.945+14C>T | |
| NM_000070.2:c.945+14C>T | NP_000061.1:n.945+14C>T | |
| NM_024344.1:c.945+14C>T | NP_077320.1:n.945+14C>T | |
| NM_173087.1:c.801+1014C>T | NP_775110.1:n.801+1014C>T | |
| NM_000070.3:c.945+14C>T MANE Select | NP_000061.1:n.945+14C>T | |
| NM_024344.2:c.945+14C>T | NP_077320.1:n.945+14C>T | |
| NM_173087.2:c.801+1014C>T | NP_775110.1:n.801+1014C>T |