Linked Data
ClinVar Variation Id:
30036
ClinVar RCV Id:
RCV000022936
dbSNP Id:
rs397514465
PubMed:
PMID:22464250
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.59193507A>G , CM000667.2:g.59193507A>G | GRCh38 |
| NC_000005.9:g.58489333A>G , CM000667.1:g.58489333A>G | GRCh37 |
| NC_000005.8:g.58525090A>G | NCBI36 |
| NG_027957.1:g.1299593T>C | |
| NG_027957.2:g.1335823T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000507116.6:c.485T>C | ENSP00000424852.1:p.Phe162Ser | |
| ENST00000340635.11:c.677T>C MANE Select | ENSP00000345502.6:p.Phe226Ser | |
| ENST00000636120.1:c.347T>C | ENSP00000490821.1:p.Phe116Ser | |
| ENST00000638939.1:c.242T>C | ENSP00000492052.1:p.Phe81Ser | |
| ENST00000309641.10:c.485T>C | ENSP00000308485.6:p.Phe162Ser | |
| ENST00000340635.10:c.677T>C | ENSP00000345502.6:p.Phe226Ser | |
| ENST00000360047.9:c.269T>C | ENSP00000353152.5:p.Phe90Ser | |
| ENST00000405053.7:n.340T>C | ||
| ENST00000405755.6:c.311T>C | ENSP00000384806.2:p.Phe104Ser | |
| ENST00000502484.6:c.494T>C | ENSP00000423094.2:p.Phe165Ser | |
| ENST00000502575.1:c.485T>C | ENSP00000425917.1:p.Phe162Ser | |
| ENST00000503258.5:c.287T>C | ENSP00000425605.1:p.Phe96Ser | |
| ENST00000505453.1:c.-98-154536T>C | ENSP00000421013.1:n.-98-154536T>C | |
| ENST00000507116.5:c.485T>C | ENSP00000424852.1:p.Phe162Ser | |
| ENST00000515324.1:n.189T>C | ||
| ENST00000546160.5:c.284T>C | ENSP00000442734.2:p.Phe95Ser | |
| ENST00000621323.4:n.222T>C | ||
| NM_001104631.1:c.677T>C | NP_001098101.1:p.Phe226Ser | |
| NM_001165899.1:c.494T>C | NP_001159371.1:p.Phe165Ser | |
| NM_001197218.1:c.485T>C | NP_001184147.1:p.Phe162Ser | |
| NM_001197219.1:c.311T>C | NP_001184148.1:p.Phe104Ser | |
| NM_001197220.1:c.287T>C | NP_001184149.1:p.Phe96Ser | |
| NM_006203.4:c.269T>C | NP_006194.2:p.Phe90Ser | |
| XM_005248537.2:c.347T>C | XP_005248594.1:p.Phe116Ser | |
| XM_005248538.3:c.269T>C | XP_005248595.1:p.Phe90Ser | |
| XM_011543469.1:c.641T>C | XP_011541771.1:p.Phe214Ser | |
| XM_011543470.1:c.641T>C | XP_011541772.1:p.Phe214Ser | |
| XM_011543471.1:c.494T>C | XP_011541773.1:p.Phe165Ser | |
| XM_011543472.1:c.494T>C | XP_011541774.1:p.Phe165Ser | |
| XM_011543473.1:c.494T>C | XP_011541775.1:p.Phe165Ser | |
| XM_011543474.1:c.464T>C | XP_011541776.1:p.Phe155Ser | |
| XM_011543475.1:c.311T>C | XP_011541777.1:p.Phe104Ser | |
| XM_011543476.1:c.257T>C | XP_011541778.1:p.Phe86Ser | |
| XM_011543477.1:c.236T>C | XP_011541779.1:p.Phe79Ser | |
| XM_011543478.1:c.173T>C | XP_011541780.1:p.Phe58Ser | |
| XM_011543479.1:c.173T>C | XP_011541781.1:p.Phe58Ser | |
| NM_001349241.1:c.464T>C | NP_001336170.1:p.Phe155Ser | |
| NM_001349242.1:c.347T>C | NP_001336171.1:p.Phe116Ser | |
| NM_001349243.1:c.-18T>C | NP_001336172.1:n.-18T>C | |
| NM_001364599.1:c.494T>C | NP_001351528.1:p.Phe165Ser | |
| NM_001364600.1:c.494T>C | NP_001351529.1:p.Phe165Ser | |
| NM_001364602.1:c.485T>C | NP_001351531.1:p.Phe162Ser | |
| NM_001364603.1:c.-274T>C | NP_001351532.1:n.-274T>C | |
| NM_001364604.1:c.-18T>C | NP_001351533.1:n.-18T>C | |
| XM_011543470.2:c.641T>C | XP_011541772.1:p.Phe214Ser | |
| XM_011543471.2:c.494T>C | XP_011541773.1:p.Phe165Ser | |
| XM_017009565.1:c.641T>C | XP_016865054.1:p.Phe214Ser | |
| XM_017009566.1:c.494T>C | XP_016865055.1:p.Phe165Ser | |
| XM_017009567.1:c.479T>C | XP_016865056.1:p.Phe160Ser | |
| XM_024446110.1:c.641T>C | XP_024301878.1:p.Phe214Ser | |
| XM_024446112.1:c.494T>C | XP_024301880.1:p.Phe165Ser | |
| NM_001104631.2:c.677T>C MANE Select | NP_001098101.1:p.Phe226Ser | |
| NM_001165899.2:c.494T>C | NP_001159371.1:p.Phe165Ser | |
| NM_001197218.2:c.485T>C | NP_001184147.1:p.Phe162Ser | |
| NM_001197219.2:c.311T>C | NP_001184148.1:p.Phe104Ser | |
| NM_001197220.2:c.287T>C | NP_001184149.1:p.Phe96Ser | |
| NM_001349241.2:c.464T>C | NP_001336170.1:p.Phe155Ser | |
| NM_001349243.2:c.-18T>C | NP_001336172.1:n.-18T>C | |
| NM_001364600.2:c.494T>C | NP_001351529.1:p.Phe165Ser | |
| NM_001364602.2:c.485T>C | NP_001351531.1:p.Phe162Ser | |
| NM_001349242.2:c.347T>C | NP_001336171.1:p.Phe116Ser | |
| NM_006203.5:c.269T>C | NP_006194.2:p.Phe90Ser |