Linked Data
ClinVar Variation Id:
21463
ClinVar RCV Id:
RCV000020651
dbSNP Id:
rs113994162
PubMed:
PMID:20301789
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.74421996C>T , CM000685.2:g.74421996C>T | GRCh38 |
| NC_000023.10:g.73641831C>T , CM000685.1:g.73641831C>T | GRCh37 |
| NC_000023.9:g.73558556C>T | NCBI36 |
| NG_011641.1:g.5747C>T | |
| NG_011641.2:g.5747C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000587091.6:c.359C>T MANE Select | ENSP00000465734.1:p.Ser120Phe | |
| ENST00000636771.1:c.105C>T | ||
| ENST00000587091.5:c.359C>T | ENSP00000465734.1:p.Ser120Phe | |
| NM_006517.4:c.359C>T | NP_006508.2:p.Ser120Phe | |
| XM_005262294.1:c.359C>T | XP_005262351.1:p.Ser120Phe | |
| XM_011531015.1:c.359C>T | XP_011529317.1:p.Ser120Phe | |
| NM_006517.5:c.359C>T MANE Select | NP_006508.2:p.Ser120Phe |