Linked Data
ClinVar Variation Id:
9053
ClinVar RCV Id:
RCV000009620
dbSNP Id:
rs267607168
PubMed:
PMID:20558380
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160425122T>C , CM000663.2:g.160425122T>C | GRCh38 |
| NC_000001.10:g.160394912T>C , CM000663.1:g.160394912T>C | GRCh37 |
| NC_000001.9:g.158661536T>C | NCBI36 |
| NG_023420.1:g.29549T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696602.1:c.1454T>C | ENSP00000512747.1:p.Phe485Ser | |
| ENST00000368061.3:c.1310T>C MANE Select | ENSP00000357040.2:p.Phe437Ser | |
| ENST00000368061.2:c.1310T>C | ENSP00000357040.2:p.Phe437Ser | |
| NM_020335.2:c.1310T>C | NP_065068.1:p.Phe437Ser | |
| XM_005245357.1:c.1310T>C | XP_005245414.1:p.Phe437Ser | |
| XM_011509804.1:c.1310T>C | XP_011508106.1:p.Phe437Ser | |
| NM_020335.3:c.1310T>C MANE Select | NP_065068.1:p.Phe437Ser |