Linked Data
ClinVar Variation Id:
1937470
ClinVar RCV Id:
RCV002653286
dbSNP Id:
rs751666282
ExAC:
15:42695111 C / A
gnomAD v2:
15-42695111-C-A
gnomAD v4:
15-42402913-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42402913C>A , CM000677.2:g.42402913C>A | GRCh38 |
| NC_000015.9:g.42695111C>A , CM000677.1:g.42695111C>A | GRCh37 |
| NC_000015.8:g.40482403C>A | NCBI36 |
| NG_008660.1:g.59811C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349748.8:c.1512C>A | ENSP00000183936.4:p.Ser504Arg | |
| ENST00000357568.8:c.1656C>A | ENSP00000350181.3:p.Ser552Arg | |
| ENST00000397163.8:c.1656C>A MANE Select | ENSP00000380349.3:p.Ser552Arg | |
| ENST00000466369.5:n.2165C>A | ||
| ENST00000483208.5:n.2545C>A | ||
| ENST00000495723.1:n.2545C>A | ||
| ENST00000549793.5:n.1887C>A | ||
| ENST00000638141.2:n.1527C>A | ||
| ENST00000673646.1:c.120C>A | ENSP00000501007.1:p.Ser40Arg | |
| ENST00000673705.1:c.309+3261C>A | ENSP00000501021.1:n.309+3261C>A | |
| ENST00000673813.1:n.578C>A | ||
| ENST00000318023.11:c.1512C>A | ENSP00000326281.8:p.Ser504Arg | |
| ENST00000349748.7:c.1512C>A | ENSP00000183936.4:p.Ser504Arg | |
| ENST00000357568.7:c.1656C>A | ENSP00000350181.3:p.Ser552Arg | |
| ENST00000397163.7:c.1656C>A | ENSP00000380349.3:p.Ser552Arg | |
| ENST00000397200.8:c.120C>A | ENSP00000380384.4:p.Ser40Arg | |
| ENST00000567071.5:c.115C>A | ||
| ENST00000569827.5:c.120C>A | ENSP00000454379.1:p.Ser40Arg | |
| NM_000070.2:c.1656C>A | NP_000061.1:p.Ser552Arg | |
| NM_024344.1:c.1656C>A | NP_077320.1:p.Ser552Arg | |
| NM_173087.1:c.1512C>A | NP_775110.1:p.Ser504Arg | |
| NM_173088.1:c.120C>A | NP_775111.1:p.Ser40Arg | |
| NM_000070.3:c.1656C>A MANE Select | NP_000061.1:p.Ser552Arg | |
| NM_024344.2:c.1656C>A | NP_077320.1:p.Ser552Arg | |
| NM_173087.2:c.1512C>A | NP_775110.1:p.Ser504Arg | |
| NM_173088.2:c.120C>A | NP_775111.1:p.Ser40Arg |