Linked Data
ClinVar Variation Id:
42257
ClinVar RCV Id:
RCV000035090
dbSNP Id:
rs397515741
PubMed:
PMID:21300850
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154413507T>C , CM000685.2:g.154413507T>C | GRCh38 |
| NC_000023.10:g.153641844T>C , CM000685.1:g.153641844T>C | GRCh37 |
| NC_000023.9:g.153295038T>C | NCBI36 |
| NG_009634.1:g.6968T>C | |
| NG_012884.2:g.3582A>G | |
| NG_009634.2:g.6973T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698234.1:n.844T>C | ||
| ENST00000698235.1:n.384T>C | ||
| ENST00000698317.1:n.1370T>C | ||
| ENST00000698318.1:n.1243T>C | ||
| ENST00000470127.2:n.588T>C | ||
| ENST00000475699.6:c.364T>C | ENSP00000419854.3:p.Phe122Leu | |
| ENST00000476800.2:n.1496T>C | ||
| ENST00000483674.3:n.201T>C | ||
| ENST00000601016.6:c.310T>C MANE Select | ENSP00000469981.1:p.Phe104Leu | |
| ENST00000612012.5:c.310T>C | ENSP00000482070.2:p.Phe104Leu | |
| ENST00000612460.5:c.310T>C | ENSP00000481037.1:p.Phe104Leu | |
| ENST00000614595.2:n.1747T>C | ||
| ENST00000615658.5:n.623T>C | ||
| ENST00000616020.5:c.364T>C | ENSP00000483636.2:p.Phe122Leu | |
| ENST00000617701.5:c.*128T>C | ENSP00000481645.1:n.*128T>C | |
| ENST00000621647.2:n.592T>C | ||
| ENST00000652354.1:c.34T>C | ENSP00000498734.1:p.Phe12Leu | |
| ENST00000652358.1:c.103T>C | ENSP00000498464.1:p.Phe35Leu | |
| ENST00000652390.1:c.229T>C | ENSP00000498858.1:p.Phe77Leu | |
| ENST00000652476.1:n.700T>C | ||
| ENST00000652682.1:c.310T>C | ENSP00000498288.1:p.Phe104Leu | |
| ENST00000652685.1:n.468T>C | ||
| ENST00000369776.8:c.235T>C | ENSP00000358791.4:p.Phe79Leu | |
| ENST00000426231.5:c.226T>C | ||
| ENST00000439735.2:c.310T>C | ENSP00000398193.1:p.Phe104Leu | |
| ENST00000475699.5:c.310T>C | ENSP00000419854.2:p.Phe104Leu | |
| ENST00000476679.5:n.223T>C | ||
| ENST00000476800.1:n.417T>C | ||
| ENST00000479875.1:n.339T>C | ||
| ENST00000483674.2:n.19T>C | ||
| ENST00000483780.5:n.84T>C | ||
| ENST00000601016.5:c.310T>C | ENSP00000469981.1:p.Phe104Leu | |
| ENST00000612012.4:c.364T>C | ENSP00000482070.1:p.Phe122Leu | |
| ENST00000612460.4:c.310T>C | ENSP00000481037.1:p.Phe104Leu | |
| ENST00000613002.4:c.310T>C | ENSP00000478154.1:p.Phe104Leu | |
| ENST00000613634.4:n.630T>C | ||
| ENST00000615658.4:n.723T>C | ||
| ENST00000615986.4:c.*128T>C | ENSP00000480133.1:n.*128T>C | |
| ENST00000616020.4:c.364T>C | ENSP00000483636.1:p.Phe122Leu | |
| ENST00000617701.4:c.*140T>C | ENSP00000481645.1:n.*140T>C | |
| ENST00000620808.4:c.*109T>C | ENSP00000479311.1:n.*109T>C | |
| ENST00000621647.1:n.824T>C | ||
| NM_000116.4:c.310T>C | NP_000107.1:p.Phe104Leu | |
| NM_001303465.1:c.364T>C | NP_001290394.1:p.Phe122Leu | |
| NM_181311.3:c.310T>C | NP_851828.1:p.Phe104Leu | |
| NM_181312.3:c.310T>C | NP_851829.1:p.Phe104Leu | |
| NM_181313.3:c.310T>C | NP_851830.1:p.Phe104Leu | |
| NR_024048.2:n.742T>C | ||
| XM_006724836.1:c.364T>C | XP_006724899.1:p.Phe122Leu | |
| XM_006724837.1:c.364T>C | XP_006724900.1:p.Phe122Leu | |
| XM_006724839.1:c.364T>C | XP_006724902.1:p.Phe122Leu | |
| XM_006724841.2:c.103T>C | XP_006724904.1:p.Phe35Leu | |
| XM_006724842.2:c.103T>C | XP_006724905.1:p.Phe35Leu | |
| XM_011531189.1:c.364T>C | XP_011529491.1:p.Phe122Leu | |
| XM_011531190.1:c.103T>C | XP_011529492.1:p.Phe35Leu | |
| XM_011531191.1:c.34T>C | XP_011529493.1:p.Phe12Leu | |
| XM_011531192.1:c.31T>C | XP_011529494.1:p.Phe11Leu | |
| XR_938511.1:n.667T>C | ||
| XM_006724841.4:c.103T>C | XP_006724904.1:p.Phe35Leu | |
| XM_006724842.4:c.103T>C | XP_006724905.1:p.Phe35Leu | |
| XM_011531191.2:c.34T>C | XP_011529493.1:p.Phe12Leu | |
| XM_017029761.1:c.310T>C | XP_016885250.1:p.Phe104Leu | |
| XM_017029762.1:c.364T>C | XP_016885251.1:p.Phe122Leu | |
| XM_017029763.1:c.310T>C | XP_016885252.1:p.Phe104Leu | |
| XM_017029764.1:c.31T>C | XP_016885253.1:p.Phe11Leu | |
| XM_017029765.2:c.103T>C | XP_016885254.1:p.Phe35Leu | |
| XM_024452431.1:c.364T>C | XP_024308199.1:p.Phe122Leu | |
| NM_000116.5:c.310T>C MANE Select | NP_000107.1:p.Phe104Leu | |
| NM_001303465.2:c.364T>C | NP_001290394.1:p.Phe122Leu | |
| NM_181311.4:c.310T>C | NP_851828.1:p.Phe104Leu | |
| NM_181312.4:c.310T>C | NP_851829.1:p.Phe104Leu | |
| NM_181313.4:c.310T>C | NP_851830.1:p.Phe104Leu | |
| NR_024048.3:n.721T>C |