Linked Data
ClinVar Variation Id:
1013890
ClinVar RCV Id:
RCV001312550
dbSNP Id:
rs750638943
gnomAD v4:
6-24528147-C-T
COSMIC:
COSM1076490
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24528147C>T , CM000668.2:g.24528147C>T | GRCh38 |
| NC_000006.11:g.24528375C>T , CM000668.1:g.24528375C>T | GRCh37 |
| NC_000006.10:g.24636354C>T | NCBI36 |
| NG_008161.1:g.38179C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357578.8:c.1324C>T MANE Select | ENSP00000350191.3:p.Pro442Ser | |
| ENST00000479394.2:n.439C>T | ||
| ENST00000672352.1:c.943C>T | ENSP00000500876.1:p.Pro315Ser | |
| ENST00000672652.1:c.1287C>T | ||
| ENST00000348925.2:c.1363C>T | ENSP00000314649.3:p.Pro455Ser | |
| ENST00000357578.7:c.1324C>T | ENSP00000350191.3:p.Pro442Ser | |
| ENST00000479394.1:n.439C>T | ||
| ENST00000491546.5:c.1240C>T | ENSP00000417687.1:p.Pro414Ser | |
| NM_001080.3:c.1324C>T MANE Select | NP_001071.1:p.Pro442Ser | |
| NM_170740.1:c.1363C>T | NP_733936.1:p.Pro455Ser | |
| NM_001368954.1:c.1180C>T | NP_001355883.1:p.Pro394Ser |