Linked Data
ClinVar Variation Id:
17548
ClinVar RCV Id:
RCV000019102
dbSNP Id:
rs121912810
PubMed:
PMID:18337100
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143321718C>T , CM000669.2:g.143321718C>T | GRCh38 |
| NC_000007.13:g.143018811C>T , CM000669.1:g.143018811C>T | GRCh37 |
| NC_000007.12:g.142728933C>T | NCBI36 |
| NG_009815.1:g.10593C>T | |
| NG_009815.2:g.10593C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650516.2:c.566C>T | ENSP00000498052.2:p.Ser189Phe | |
| ENST00000343257.7:c.566C>T MANE Select | ENSP00000339867.2:p.Ser189Phe | |
| ENST00000432192.6:c.334C>T | ||
| ENST00000455478.6:c.20C>T | ENSP00000400027.2:p.Ser7Phe | |
| ENST00000650516.1:c.566C>T | ENSP00000498052.1:p.Ser189Phe | |
| ENST00000343257.6:c.566C>T | ENSP00000339867.2:p.Ser189Phe | |
| ENST00000432192.5:c.24C>T | ||
| ENST00000455478.5:c.24C>T | ||
| ENST00000495612.1:n.24C>T | ||
| NM_000083.2:c.566C>T | NP_000074.2:p.Ser189Phe | |
| NR_046453.1:n.653C>T | ||
| XM_011515781.1:c.566C>T | XP_011514083.1:p.Ser189Phe | |
| XM_017011739.1:c.273C>T | XP_016867228.1:p.Leu91= | |
| XM_017011740.1:c.273C>T | XP_016867229.1:p.Leu91= | |
| NM_000083.3:c.566C>T MANE Select | NP_000074.3:p.Ser189Phe | |
| NR_046453.2:n.668C>T |