Linked Data
ClinVar Variation Id:
191663
dbSNP Id:
rs773095472
ExAC:
6:133802608 C / G
gnomAD v2:
6-133802608-C-G
gnomAD v3:
6-133481470-C-G
gnomAD v4:
6-133481470-C-G
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.133481470C>G , CM000668.2:g.133481470C>G | GRCh38 |
| NC_000006.11:g.133802608C>G , CM000668.1:g.133802608C>G | GRCh37 |
| NC_000006.10:g.133844301C>G | NCBI36 |
| NG_011596.1:g.245114C>G | |
| NG_011596.2:g.245114C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525849.7:c.909C>G | ENSP00000433219.1:p.Phe303Leu | |
| ENST00000706301.1:c.816C>G | ENSP00000516341.1:p.Phe272Leu | |
| ENST00000355167.8:c.834C>G | ENSP00000347294.4:p.Phe278Leu | |
| ENST00000497350.3:n.1209C>G | ||
| ENST00000683325.1:c.501C>G | ENSP00000508141.1:p.Phe167Leu | |
| ENST00000684773.1:c.501C>G | ENSP00000506812.1:p.Phe167Leu | |
| ENST00000355286.12:c.978C>G MANE Select | ENSP00000347434.7:p.Phe326Leu | |
| ENST00000431403.3:c.909C>G | ENSP00000404558.3:p.Phe303Leu | |
| ENST00000525849.6:c.909C>G | ENSP00000433219.1:p.Phe303Leu | |
| ENST00000355167.7:c.978C>G | ENSP00000347294.3:p.Phe326Leu | |
| ENST00000355286.10:c.909C>G | ENSP00000347434.6:p.Phe303Leu | |
| ENST00000367895.9:c.978C>G | ENSP00000356870.5:p.Phe326Leu | |
| ENST00000430974.6:c.834C>G | ENSP00000388670.2:p.Phe278Leu | |
| ENST00000431403.2:c.978C>G | ENSP00000404558.2:p.Phe326Leu | |
| ENST00000452339.6:c.816C>G | ENSP00000395916.2:p.Phe272Leu | |
| ENST00000525849.5:c.909C>G | ENSP00000433219.1:p.Phe303Leu | |
| ENST00000531861.5:n.978C>G | ||
| ENST00000531901.5:c.996C>G | ENSP00000432770.1:p.Phe332Leu | |
| ENST00000532518.1:n.324C>G | ||
| NM_001301012.1:c.816C>G | NP_001287941.1:p.Phe272Leu | |
| NM_001301013.1:c.996C>G | NP_001287942.1:p.Phe332Leu | |
| NM_004100.4:c.978C>G | NP_004091.3:p.Phe326Leu | |
| NM_172103.3:c.909C>G | NP_742101.2:p.Phe303Leu | |
| NM_172105.3:c.978C>G | NP_742103.1:p.Phe326Leu | |
| XM_005266851.3:c.996C>G | XP_005266908.1:p.Phe332Leu | |
| XM_005266852.3:c.996C>G | XP_005266909.1:p.Phe332Leu | |
| XM_005266853.3:c.909C>G | XP_005266910.1:p.Phe303Leu | |
| XM_011535540.1:c.927C>G | XP_011533842.1:p.Phe309Leu | |
| XM_011535541.1:c.912C>G | XP_011533843.1:p.Phe304Leu | |
| XM_011535542.1:c.834C>G | XP_011533844.1:p.Phe278Leu | |
| XM_005266851.5:c.996C>G | XP_005266908.1:p.Phe332Leu | |
| XM_005266853.5:c.909C>G | XP_005266910.1:p.Phe303Leu | |
| XM_017010368.2:c.996C>G | XP_016865857.1:p.Phe332Leu | |
| XM_017010369.2:c.978C>G | XP_016865858.1:p.Phe326Leu | |
| XM_017010370.2:c.927C>G | XP_016865859.1:p.Phe309Leu | |
| XM_017010371.2:c.912C>G | XP_016865860.1:p.Phe304Leu | |
| XM_017010372.2:c.834C>G | XP_016865861.1:p.Phe278Leu | |
| XM_017010373.2:c.816C>G | XP_016865862.1:p.Phe272Leu | |
| XM_017010374.2:c.834C>G | XP_016865863.1:p.Phe278Leu | |
| XM_017010375.1:c.834C>G | XP_016865864.1:p.Phe278Leu | |
| XR_001743219.2:n.1158C>G | ||
| XR_001743220.2:n.1140C>G | ||
| NM_004100.5:c.978C>G MANE Select | NP_004091.3:p.Phe326Leu | |
| NM_001370458.1:c.909C>G | NP_001357387.1:p.Phe303Leu | |
| NM_001370459.1:c.834C>G | NP_001357388.1:p.Phe278Leu | |
| NM_001301012.2:c.816C>G | NP_001287941.1:p.Phe272Leu | |
| NM_001301013.2:c.996C>G | NP_001287942.1:p.Phe332Leu | |
| NM_172103.4:c.909C>G | NP_742101.2:p.Phe303Leu | |
| NM_172105.4:c.978C>G | NP_742103.1:p.Phe326Leu |