Linked Data
ClinVar Variation Id:
694182
ClinVar RCV Id:
RCV001030934
dbSNP Id:
rs1057519966
COSMIC:
COSM4392689
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.49619064A>G , CM000679.2:g.49619064A>G | GRCh38 |
| NC_000017.10:g.47696426A>G , CM000679.1:g.47696426A>G | GRCh37 |
| NC_000017.9:g.45051425A>G | NCBI36 |
| NG_041815.1:g.64100T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000504102.6:c.397T>C MANE Select | ENSP00000425905.1:p.Phe133Leu | |
| ENST00000509079.6:c.397T>C | ENSP00000426986.2:p.Phe133Leu | |
| ENST00000513080.6:c.*246T>C | ENSP00000499333.1:n.*246T>C | |
| ENST00000514121.6:c.397T>C | ENSP00000424119.2:p.Phe133Leu | |
| ENST00000659760.1:c.397T>C | ENSP00000499367.1:p.Phe133Leu | |
| ENST00000665825.1:c.397T>C | ENSP00000499562.1:p.Phe133Leu | |
| ENST00000671445.1:c.*246T>C | ENSP00000499537.1:n.*246T>C | |
| ENST00000347630.6:c.397T>C | ENSP00000240327.2:p.Phe133Leu | |
| ENST00000393328.6:c.397T>C | ENSP00000377001.2:p.Phe133Leu | |
| ENST00000503676.5:c.397T>C | ENSP00000420908.1:p.Phe133Leu | |
| ENST00000504102.5:c.397T>C | ENSP00000425905.1:p.Phe133Leu | |
| ENST00000505581.5:c.397T>C | ENSP00000420960.1:p.Phe133Leu | |
| ENST00000506399.5:c.*340T>C | ENSP00000425604.1:n.*340T>C | |
| ENST00000507970.5:c.397T>C | ENSP00000426262.1:p.Phe133Leu | |
| ENST00000509079.5:c.397T>C | ENSP00000426986.1:p.Phe133Leu | |
| ENST00000509869.5:c.116T>C | ||
| ENST00000514121.5:c.397T>C | ENSP00000424119.1:p.Phe133Leu | |
| NM_001007226.1:c.397T>C | NP_001007227.1:p.Phe133Leu | |
| NM_001007227.1:c.397T>C | NP_001007228.1:p.Phe133Leu | |
| NM_001007228.1:c.397T>C | NP_001007229.1:p.Phe133Leu | |
| NM_001007229.1:c.397T>C | NP_001007230.1:p.Phe133Leu | |
| NM_001007230.1:c.397T>C | NP_001007231.1:p.Phe133Leu | |
| NM_003563.3:c.397T>C | NP_003554.1:p.Phe133Leu | |
| XM_005257723.3:c.397T>C | XP_005257780.1:p.Phe133Leu | |
| XM_005257724.3:c.397T>C | XP_005257781.1:p.Phe133Leu | |
| XM_005257723.4:c.397T>C | XP_005257780.1:p.Phe133Leu | |
| XM_005257724.4:c.397T>C | XP_005257781.1:p.Phe133Leu | |
| XM_017025204.1:c.397T>C | XP_016880693.1:p.Phe133Leu | |
| XM_024450995.1:c.397T>C | XP_024306763.1:p.Phe133Leu | |
| NM_001007228.2:c.397T>C MANE Select | NP_001007229.1:p.Phe133Leu | |
| NM_001370730.1:c.397T>C | NP_001357659.1:p.Phe133Leu | |
| NM_001370731.1:c.397T>C | NP_001357660.1:p.Phe133Leu | |
| NM_001370732.1:c.397T>C | NP_001357661.1:p.Phe133Leu |