Linked Data
ClinVar Variation Id:
425561
ClinVar RCV Id:
RCV000488435
dbSNP Id:
rs1085307129
PubMed:
PMID:28127940
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.139472801T>C , CM000666.2:g.139472801T>C | GRCh38 |
| NC_000004.11:g.140393955T>C , CM000666.1:g.140393955T>C | GRCh37 |
| NC_000004.10:g.140613405T>C | NCBI36 |
| NG_051587.1:g.24570T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305626.6:c.365T>C MANE Select | ENSP00000306496.5:p.Phe122Ser | |
| ENST00000652268.1:c.509T>C | ENSP00000498778.1:p.Phe170Ser | |
| ENST00000305626.5:c.365T>C | ENSP00000306496.5:p.Phe122Ser | |
| NM_031296.1:c.365T>C | NP_112586.1:p.Phe122Ser | |
| XM_011532299.1:c.509T>C | XP_011530601.1:p.Phe170Ser | |
| NM_031296.2:c.365T>C | NP_112586.1:p.Phe122Ser | |
| NM_031296.3:c.365T>C MANE Select | NP_112586.1:p.Phe122Ser |