Linked Data
ClinVar Variation Id:
480
dbSNP Id:
rs104894276
ExAC:
11:112103901 C / T
gnomAD v2:
11-112103901-C-T
gnomAD v3:
11-112233178-C-T
gnomAD v4:
11-112233178-C-T
PubMed:
PMID:9450907
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112233178C>T , CM000673.2:g.112233178C>T | GRCh38 |
| NC_000011.9:g.112103901C>T , CM000673.1:g.112103901C>T | GRCh37 |
| NC_000011.8:g.111609111C>T | NCBI36 |
| NG_008743.1:g.11814C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280362.8:c.259C>T MANE Select | ENSP00000280362.3:p.Pro87Ser | |
| ENST00000280362.7:c.259C>T | ENSP00000280362.3:p.Pro87Ser | |
| ENST00000524931.1:c.55C>T | ENSP00000434688.1:p.Pro19Ser | |
| ENST00000525803.1:c.179C>T | ENSP00000431750.1:p.Ala60Val | |
| ENST00000527428.5:n.433C>T | ||
| ENST00000527635.1:n.300C>T | ||
| ENST00000528679.5:c.*68C>T | ENSP00000435895.1:n.*68C>T | |
| ENST00000531175.1:n.210C>T | ||
| ENST00000531673.5:c.*68C>T | ENSP00000433469.1:n.*68C>T | |
| NM_000317.2:c.259C>T | NP_000308.1:p.Pro87Ser | |
| XM_011542943.1:c.220C>T | XP_011541245.1:p.Pro74Ser | |
| NM_000317.3:c.259C>T MANE Select | NP_000308.1:p.Pro87Ser |