Linked Data
ClinVar Variation Id:
16583
ClinVar RCV Id:
RCV000018051
dbSNP Id:
rs121913045
gnomAD v2:
2-128050361-A-G
gnomAD v4:
2-127292785-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127292785A>G , CM000664.2:g.127292785A>G | GRCh38 |
| NC_000002.11:g.128050361A>G , CM000664.1:g.128050361A>G | GRCh37 |
| NC_000002.10:g.127766831A>G | NCBI36 |
| NG_007454.1:g.6392T>C , LRG_462:g.6392T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285398.7:c.296T>C MANE Select | ENSP00000285398.2:p.Phe99Ser | |
| ENST00000642308.1:c.296T>C | ENSP00000496684.1:p.Phe99Ser | |
| ENST00000644317.1:c.235-81T>C | ENSP00000494012.1:n.235-81T>C | |
| ENST00000645233.1:c.296T>C | ENSP00000494116.1:p.Phe99Ser | |
| ENST00000645467.1:c.296T>C | ENSP00000494889.1:p.Phe99Ser | |
| ENST00000645736.1:c.152T>C | ENSP00000494545.1:p.Phe51Ser | |
| ENST00000646654.1:c.296T>C | ENSP00000494526.1:p.Phe99Ser | |
| ENST00000647169.1:c.296T>C | ENSP00000495619.1:p.Phe99Ser | |
| ENST00000285398.6:c.296T>C | ENSP00000285398.2:p.Phe99Ser | |
| ENST00000426778.5:c.*277T>C | ENSP00000415335.1:n.*277T>C | |
| ENST00000445889.5:c.*339T>C | ENSP00000390888.1:n.*339T>C | |
| ENST00000462306.5:n.291-81T>C | ||
| ENST00000490062.1:n.307-81T>C | ||
| ENST00000494464.5:n.261-81T>C | ||
| NM_000122.1:c.296T>C , LRG_462t1:c.296T>C | NP_000113.1:p.Phe99Ser | |
| NM_001303416.1:c.104T>C | NP_001290345.1:p.Phe35Ser | |
| NM_001303418.1:c.104T>C | NP_001290347.1:p.Phe35Ser | |
| XM_011510794.1:c.296T>C | XP_011509096.1:p.Phe99Ser | |
| XM_011510795.1:c.-80-81T>C | XP_011509097.1:n.-80-81T>C | |
| XM_011510794.2:c.296T>C | XP_011509096.1:p.Phe99Ser | |
| XM_017003583.1:c.-80-81T>C | XP_016859072.1:n.-80-81T>C | |
| NM_000122.2:c.296T>C MANE Select | NP_000113.1:p.Phe99Ser | |
| NM_001303416.2:c.104T>C | NP_001290345.1:p.Phe35Ser | |
| NM_001303418.2:c.104T>C | NP_001290347.1:p.Phe35Ser |