Linked Data
ClinVar Variation Id:
11551
ClinVar RCV Id:
RCV000012307
dbSNP Id:
rs122458143
PubMed:
PMID:18274675
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136207855G>T , CM000685.2:g.136207855G>T | GRCh38 |
| NC_000023.10:g.135290014G>T , CM000685.1:g.135290014G>T | GRCh37 |
| NC_000023.9:g.135117680G>T | NCBI36 |
| NG_015895.1:g.65456G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370683.6:c.443G>T MANE Select | ENSP00000359717.1:p.Cys148Phe | |
| ENST00000394155.8:c.395G>T MANE Plus Clinical | ENSP00000377710.2:p.Cys132Phe | |
| ENST00000628919.3:c.395G>T | ENSP00000487147.2:p.Cys132Phe | |
| ENST00000651089.1:c.395G>T | ENSP00000498684.1:p.Cys132Phe | |
| ENST00000651929.2:c.395G>T | ENSP00000499016.1:p.Cys132Phe | |
| ENST00000652457.1:c.395G>T | ENSP00000498503.1:p.Cys132Phe | |
| ENST00000345434.7:c.395G>T | ENSP00000071281.6:p.Cys132Phe | |
| ENST00000370674.3:c.395G>T | ENSP00000359708.1:p.Cys132Phe | |
| ENST00000370676.7:c.443G>T | ENSP00000359710.3:p.Cys148Phe | |
| ENST00000370683.5:c.443G>T | ENSP00000359717.1:p.Cys148Phe | |
| ENST00000370690.7:c.395G>T | ENSP00000359724.3:p.Cys132Phe | |
| ENST00000394153.6:c.395G>T | ENSP00000377709.2:p.Cys132Phe | |
| ENST00000394155.6:c.395G>T | ENSP00000377710.2:p.Cys132Phe | |
| ENST00000420362.5:c.395G>T | ENSP00000391779.1:p.Cys132Phe | |
| ENST00000434885.5:c.395G>T | ENSP00000413798.1:p.Cys132Phe | |
| ENST00000449474.5:c.395G>T | ENSP00000414604.1:p.Cys132Phe | |
| ENST00000452016.5:c.395G>T | ENSP00000408038.1:p.Cys132Phe | |
| ENST00000456445.5:c.395G>T | ENSP00000412642.1:p.Cys132Phe | |
| ENST00000458357.5:c.395G>T | ENSP00000389920.1:p.Cys132Phe | |
| ENST00000535737.5:c.395G>T | ENSP00000444815.1:p.Cys132Phe | |
| ENST00000539015.5:c.482G>T | ENSP00000437673.1:p.Cys161Phe | |
| ENST00000543669.5:c.395G>T | ENSP00000443333.1:p.Cys132Phe | |
| ENST00000618438.4:c.395G>T | ENSP00000477609.1:p.Cys132Phe | |
| ENST00000626004.1:n.99G>T | ||
| ENST00000627383.2:c.395G>T | ENSP00000487318.1:p.Cys132Phe | |
| ENST00000627578.2:c.395G>T | ENSP00000486436.1:p.Cys132Phe | |
| ENST00000628032.2:c.395G>T | ENSP00000487030.1:p.Cys132Phe | |
| ENST00000628443.2:c.395G>T | ENSP00000486631.1:p.Cys132Phe | |
| ENST00000628568.1:c.395G>T | ENSP00000486782.1:p.Cys132Phe | |
| ENST00000629039.2:c.395G>T | ENSP00000486439.1:p.Cys132Phe | |
| ENST00000630084.2:c.395G>T | ENSP00000485897.1:p.Cys132Phe | |
| ENST00000630684.2:n.445G>T | ||
| NM_001159699.1:c.443G>T | NP_001153171.1:p.Cys148Phe | |
| NM_001159700.1:c.395G>T | NP_001153172.1:p.Cys132Phe | |
| NM_001159701.1:c.482G>T | NP_001153173.1:p.Cys161Phe | |
| NM_001159702.2:c.395G>T | NP_001153174.1:p.Cys132Phe | |
| NM_001159703.1:c.395G>T | NP_001153175.1:p.Cys132Phe | |
| NM_001159704.1:c.395G>T | NP_001153176.1:p.Cys132Phe | |
| NM_001167819.1:c.395G>T | NP_001161291.1:p.Cys132Phe | |
| NM_001449.4:c.395G>T | NP_001440.2:p.Cys132Phe | |
| NR_027621.1:n.806G>T | ||
| XM_006724743.2:c.443G>T | XP_006724806.1:p.Cys148Phe | |
| XM_006724744.2:c.395G>T | XP_006724807.1:p.Cys132Phe | |
| XM_006724745.2:c.395G>T | XP_006724808.1:p.Cys132Phe | |
| XM_006724746.2:c.395G>T | XP_006724809.1:p.Cys132Phe | |
| XM_006724747.2:c.395G>T | XP_006724810.1:p.Cys132Phe | |
| XM_011531316.1:c.443G>T | XP_011529618.1:p.Cys148Phe | |
| NM_001330659.1:c.443G>T | NP_001317588.1:p.Cys148Phe | |
| XM_006724744.3:c.395G>T | XP_006724807.1:p.Cys132Phe | |
| XM_006724745.4:c.395G>T | XP_006724808.1:p.Cys132Phe | |
| XM_006724746.3:c.395G>T | XP_006724809.1:p.Cys132Phe | |
| XM_006724747.3:c.395G>T | XP_006724810.1:p.Cys132Phe | |
| XM_017029357.2:c.395G>T | XP_016884846.1:p.Cys132Phe | |
| XM_024452353.1:c.395G>T | XP_024308121.1:p.Cys132Phe | |
| XM_024452354.1:c.395G>T | XP_024308122.1:p.Cys132Phe | |
| XM_024452355.1:c.395G>T | XP_024308123.1:p.Cys132Phe | |
| NM_001449.5:c.395G>T | NP_001440.2:p.Cys132Phe | |
| NM_001159699.2:c.443G>T MANE Select | NP_001153171.1:p.Cys148Phe | |
| NM_001159700.2:c.395G>T | NP_001153172.1:p.Cys132Phe | |
| NM_001159701.2:c.482G>T | NP_001153173.1:p.Cys161Phe | |
| NM_001159702.3:c.395G>T MANE Plus Clinical | NP_001153174.1:p.Cys132Phe | |
| NM_001159703.2:c.395G>T | NP_001153175.1:p.Cys132Phe | |
| NM_001330659.2:c.443G>T | NP_001317588.1:p.Cys148Phe | |
| NM_001369326.1:c.395G>T | NP_001356255.1:p.Cys132Phe | |
| NM_001369327.1:c.395G>T | NP_001356256.1:p.Cys132Phe | |
| NM_001369328.1:c.395G>T | NP_001356257.1:p.Cys132Phe | |
| NM_001369329.1:c.395G>T | NP_001356258.1:p.Cys132Phe | |
| NM_001369330.1:c.395G>T | NP_001356259.1:p.Cys132Phe | |
| NM_001369331.1:c.395G>T | NP_001356260.1:p.Cys132Phe | |
| NM_001369327.2:c.395G>T | NP_001356256.1:p.Cys132Phe | |
| NR_027621.2:n.806G>T |