Linked Data
dbSNP Id:
rs778259393
ExAC:
15:42684802 C / T
gnomAD v2:
15-42684802-C-T
gnomAD v3:
15-42392604-C-T
gnomAD v4:
15-42392604-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42392604C>T , CM000677.2:g.42392604C>T | GRCh38 |
| NC_000015.9:g.42684802C>T , CM000677.1:g.42684802C>T | GRCh37 |
| NC_000015.8:g.40472094C>T | NCBI36 |
| NG_008660.1:g.49502C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000349748.8:c.802-35C>T | ENSP00000183936.4:n.802-35C>T | |
| ENST00000357568.8:c.946-35C>T | ENSP00000350181.3:n.946-35C>T | |
| ENST00000397163.8:c.946-35C>T MANE Select | ENSP00000380349.3:n.946-35C>T | |
| ENST00000466369.5:n.1455-35C>T | ||
| ENST00000483208.5:n.1177-35C>T | ||
| ENST00000495723.1:n.1177-35C>T | ||
| ENST00000549793.5:n.1177-35C>T | ||
| ENST00000638141.2:n.817-35C>T | ||
| ENST00000673705.1:c.71-4196C>T | ENSP00000501021.1:n.71-4196C>T | |
| ENST00000318023.11:c.802-35C>T | ENSP00000326281.8:n.802-35C>T | |
| ENST00000349748.7:c.802-35C>T | ENSP00000183936.4:n.802-35C>T | |
| ENST00000357568.7:c.946-35C>T | ENSP00000350181.3:n.946-35C>T | |
| ENST00000397163.7:c.946-35C>T | ENSP00000380349.3:n.946-35C>T | |
| NM_000070.2:c.946-35C>T | NP_000061.1:n.946-35C>T | |
| NM_024344.1:c.946-35C>T | NP_077320.1:n.946-35C>T | |
| NM_173087.1:c.802-35C>T | NP_775110.1:n.802-35C>T | |
| NM_000070.3:c.946-35C>T MANE Select | NP_000061.1:n.946-35C>T | |
| NM_024344.2:c.946-35C>T | NP_077320.1:n.946-35C>T | |
| NM_173087.2:c.802-35C>T | NP_775110.1:n.802-35C>T |