Linked Data
ClinVar Variation Id:
13200
ClinVar RCV Id:
RCV000014087
dbSNP Id:
rs121917738
PubMed:
PMID:19100526
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.79557363A>G , CM000672.2:g.79557363A>G | GRCh38 |
| NC_000010.10:g.81317119A>G , CM000672.1:g.81317119A>G | GRCh37 |
| NG_013046.1:g.8045T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372325.7:c.593T>C MANE Select | ENSP00000361400.2:p.Phe198Ser | |
| ENST00000372325.6:c.593T>C | ENSP00000361400.2:p.Phe198Ser | |
| ENST00000372327.9:c.593T>C | ENSP00000361402.5:p.Phe198Ser | |
| NM_001098668.2:c.593T>C | NP_001092138.1:p.Phe198Ser | |
| XM_005270128.2:c.644T>C | XP_005270185.1:p.Phe215Ser | |
| XM_005270131.3:c.593T>C | XP_005270188.1:p.Phe198Ser | |
| XM_005270132.3:c.593T>C | XP_005270189.1:p.Phe198Ser | |
| XM_011540124.1:c.593T>C | XP_011538426.1:p.Phe198Ser | |
| XM_011540125.1:c.593T>C | XP_011538427.1:p.Phe198Ser | |
| NM_001098668.3:c.593T>C | NP_001092138.1:p.Phe198Ser | |
| NM_001320813.1:c.593T>C | NP_001307742.1:p.Phe198Ser | |
| NM_001320814.1:c.623T>C | NP_001307743.1:p.Phe208Ser | |
| XM_005270128.3:c.644T>C | XP_005270185.1:p.Phe215Ser | |
| XM_017016608.1:c.593T>C | XP_016872097.1:p.Phe198Ser | |
| NM_001098668.4:c.593T>C MANE Select | NP_001092138.1:p.Phe198Ser | |
| NM_001320813.2:c.593T>C | NP_001307742.1:p.Phe198Ser |