Linked Data
ClinVar Variation Id:
18408
ClinVar RCV Id:
RCV000000894
dbSNP Id:
rs267607094
gnomAD v4:
4-55346365-C-A
PubMed:
PMID:20637498
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55346365C>A , CM000666.2:g.55346365C>A | GRCh38 |
| NC_000004.11:g.56212532C>A , CM000666.1:g.56212532C>A | GRCh37 |
| NC_000004.10:g.55907289C>A | NCBI36 |
| NG_028230.1:g.5145C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264228.9:c.29C>A MANE Select | ENSP00000264228.4:p.Ser10Ter | |
| ENST00000679351.1:c.29C>A | ENSP00000505676.1:p.Ser10Ter | |
| ENST00000679707.1:c.29C>A | ENSP00000505713.1:p.Ser10Ter | |
| ENST00000679836.1:c.29C>A | ENSP00000506601.1:p.Ser10Ter | |
| ENST00000680700.1:c.29C>A | ENSP00000504926.1:p.Ser10Ter | |
| ENST00000264228.8:c.29C>A | ENSP00000264228.4:p.Ser10Ter | |
| NM_024592.4:c.29C>A | NP_078868.1:p.Ser10Ter | |
| XM_005265766.2:c.29C>A | XP_005265823.1:p.Ser10Ter | |
| XM_005265767.2:c.29C>A | XP_005265824.1:p.Ser10Ter | |
| XM_005265766.4:c.29C>A | XP_005265823.1:p.Ser10Ter | |
| XM_005265767.3:c.29C>A | XP_005265824.1:p.Ser10Ter | |
| NM_024592.5:c.29C>A MANE Select | NP_078868.1:p.Ser10Ter |