Linked Data
ClinVar Variation Id:
189003
ClinVar RCV Id:
RCV000169386
dbSNP Id:
rs786204618
gnomAD v4:
14-87982227-G-T
PubMed:
PMID:23462331
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87982227G>T , CM000676.2:g.87982227G>T | GRCh38 |
| NC_000014.8:g.88448571G>T , CM000676.1:g.88448571G>T | GRCh37 |
| NC_000014.7:g.87518324G>T | NCBI36 |
| NG_011853.2:g.16337C>A | |
| NG_011853.3:g.16337C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261304.7:c.599C>A MANE Select | ENSP00000261304.2:p.Ser200Ter | |
| ENST00000261304.6:c.599C>A | ENSP00000261304.2:p.Ser200Ter | |
| ENST00000393568.8:c.530C>A | ENSP00000377198.4:p.Ser177Ter | |
| ENST00000393569.6:c.521C>A | ENSP00000377199.2:p.Ser174Ter | |
| ENST00000474294.6:n.589C>A | ||
| ENST00000544807.6:c.431C>A | ENSP00000437513.2:p.Ser144Ter | |
| ENST00000554372.5:c.*348C>A | ENSP00000451884.1:n.*348C>A | |
| ENST00000554916.5:n.478C>A | ||
| ENST00000556261.5:n.300C>A | ||
| ENST00000557316.5:c.599C>A | ENSP00000452314.1:p.Ser200Ter | |
| ENST00000622264.4:c.589C>A | ||
| NM_000153.3:c.599C>A | NP_000144.2:p.Ser200Ter | |
| NM_001201401.1:c.530C>A | NP_001188330.1:p.Ser177Ter | |
| NM_001201402.1:c.521C>A | NP_001188331.1:p.Ser174Ter | |
| XM_011536618.1:c.431C>A | XP_011534920.1:p.Ser144Ter | |
| XM_011536618.2:c.431C>A | XP_011534920.1:p.Ser144Ter | |
| NM_000153.4:c.599C>A MANE Select | NP_000144.2:p.Ser200Ter | |
| NM_001201401.2:c.530C>A | NP_001188330.1:p.Ser177Ter | |
| NM_001201402.2:c.521C>A | NP_001188331.1:p.Ser174Ter |