Linked Data
ClinVar Variation Id:
287449
dbSNP Id:
rs138867099
ExAC:
15:42652235 C / A
gnomAD v2:
15-42652235-C-A
gnomAD v3:
15-42360037-C-A
gnomAD v4:
15-42360037-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42360037C>A , CM000677.2:g.42360037C>A | GRCh38 |
| NC_000015.9:g.42652235C>A , CM000677.1:g.42652235C>A | GRCh37 |
| NC_000015.8:g.40439527C>A | NCBI36 |
| NG_008660.1:g.16935C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349748.8:c.232C>A | ENSP00000183936.4:p.Pro78Thr | |
| ENST00000357568.8:c.232C>A | ENSP00000350181.3:p.Pro78Thr | |
| ENST00000397163.8:c.232C>A MANE Select | ENSP00000380349.3:p.Pro78Thr | |
| ENST00000466369.5:n.540+5584C>A | ||
| ENST00000483208.5:n.540+5584C>A | ||
| ENST00000495723.1:n.540+5584C>A | ||
| ENST00000549793.5:n.540+5584C>A | ||
| ENST00000318023.11:c.232C>A | ENSP00000326281.8:p.Pro78Thr | |
| ENST00000349748.7:c.232C>A | ENSP00000183936.4:p.Pro78Thr | |
| ENST00000357568.7:c.232C>A | ENSP00000350181.3:p.Pro78Thr | |
| ENST00000397163.7:c.232C>A | ENSP00000380349.3:p.Pro78Thr | |
| NM_000070.2:c.232C>A | NP_000061.1:p.Pro78Thr | |
| NM_024344.1:c.232C>A | NP_077320.1:p.Pro78Thr | |
| NM_173087.1:c.232C>A | NP_775110.1:p.Pro78Thr | |
| NM_000070.3:c.232C>A MANE Select | NP_000061.1:p.Pro78Thr | |
| NM_024344.2:c.232C>A | NP_077320.1:p.Pro78Thr | |
| NM_173087.2:c.232C>A | NP_775110.1:p.Pro78Thr |