Linked Data
ClinVar Variation Id:
2021902
ClinVar RCV Id:
RCV002866442
dbSNP Id:
rs63749990
PubMed:
PMID:15475387
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.37000985T>A , CM000665.2:g.37000985T>A | GRCh38 |
| NC_000003.11:g.37042476T>A , CM000665.1:g.37042476T>A | GRCh37 |
| NC_000003.10:g.37017480T>A | NCBI36 |
| NG_007109.2:g.12636T>A , LRG_216:g.12636T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413740.2:c.238T>A | ENSP00000416476.2:p.Phe80Ile | |
| ENST00000429117.6:c.-52T>A | ENSP00000407019.2:n.-52T>A | |
| ENST00000450420.6:c.238T>A | ENSP00000393006.2:p.Phe80Ile | |
| ENST00000456676.7:c.238T>A | ENSP00000416687.3:p.Phe80Ile | |
| ENST00000458009.6:c.238T>A | ENSP00000411066.2:p.Phe80Ile | |
| ENST00000492474.6:c.-486T>A | ENSP00000518393.1:n.-486T>A | |
| ENST00000616768.6:c.238T>A | ENSP00000480669.3:p.Phe80Ile | |
| ENST00000673673.2:c.238T>A | ENSP00000500979.2:p.Phe80Ile | |
| ENST00000231790.8:c.238T>A MANE Select | ENSP00000231790.3:p.Phe80Ile | |
| ENST00000413212.2:c.-486T>A | ENSP00000400844.2:n.-486T>A | |
| ENST00000432299.6:c.*318T>A | ENSP00000416783.1:n.*318T>A | |
| ENST00000441265.6:c.-486T>A | ENSP00000398392.2:n.-486T>A | |
| ENST00000442249.6:n.253T>A | ||
| ENST00000447829.6:c.-52T>A | ENSP00000399329.2:n.-52T>A | |
| ENST00000539477.6:c.-394T>A | ENSP00000443665.1:n.-394T>A | |
| ENST00000673673.1:c.191T>A | ||
| ENST00000673713.1:n.269T>A | ||
| ENST00000673715.1:c.238T>A | ENSP00000501301.1:p.Phe80Ile | |
| ENST00000673897.1:c.*30T>A | ENSP00000501109.1:n.*30T>A | |
| ENST00000673899.1:c.238T>A | ENSP00000501030.1:p.Phe80Ile | |
| ENST00000673947.1:c.*378T>A | ENSP00000501304.1:n.*378T>A | |
| ENST00000673972.1:c.*116T>A | ENSP00000501281.1:n.*116T>A | |
| ENST00000673990.1:n.223T>A | ||
| ENST00000674019.1:c.-486T>A | ENSP00000501081.1:n.-486T>A | |
| ENST00000674107.1:n.180T>A | ||
| ENST00000674111.1:c.238T>A | ENSP00000501162.1:p.Phe80Ile | |
| ENST00000231790.6:c.238T>A | ENSP00000231790.2:p.Phe80Ile | |
| ENST00000429117.5:c.-52T>A | ENSP00000407019.1:n.-52T>A | |
| ENST00000432299.5:c.*318T>A | ENSP00000416783.1:n.*318T>A | |
| ENST00000435176.5:c.-52T>A | ENSP00000402564.1:n.-52T>A | |
| ENST00000441265.5:c.-394T>A | ENSP00000398392.1:n.-394T>A | |
| ENST00000442249.5:c.*30T>A | ENSP00000387511.1:n.*30T>A | |
| ENST00000454028.5:c.*116T>A | ENSP00000392649.1:n.*116T>A | |
| ENST00000455445.6:c.-486T>A | ENSP00000398272.2:n.-486T>A | |
| ENST00000456676.6:c.213T>A | ||
| ENST00000457004.5:c.*86-3416T>A | ENSP00000407773.1:n.*86-3416T>A | |
| ENST00000458205.6:c.-486T>A | ENSP00000402667.2:n.-486T>A | |
| ENST00000466900.5:n.165T>A | ||
| ENST00000476172.5:n.360T>A | ||
| ENST00000485889.1:n.242T>A | ||
| ENST00000492474.5:n.261T>A | ||
| ENST00000536378.5:c.-486T>A | ENSP00000444286.2:n.-486T>A | |
| ENST00000539477.5:c.-394T>A | ENSP00000443665.1:n.-394T>A | |
| NM_000249.3:c.238T>A , LRG_216t1:c.238T>A | NP_000240.1:p.Phe80Ile | |
| NM_001167617.1:c.-52T>A | NP_001161089.1:n.-52T>A | |
| NM_001167618.1:c.-486T>A | NP_001161090.1:n.-486T>A | |
| NM_001167619.1:c.-394T>A | NP_001161091.1:n.-394T>A | |
| NM_001258271.1:c.238T>A | NP_001245200.1:p.Phe80Ile | |
| NM_001258273.1:c.-486T>A | NP_001245202.1:n.-486T>A | |
| NM_001258274.1:c.-486T>A | NP_001245203.1:n.-486T>A | |
| XM_005265161.1:c.238T>A | XP_005265218.1:p.Phe80Ile | |
| XM_005265163.1:c.-486T>A | XP_005265220.1:n.-486T>A | |
| XM_005265164.1:c.-486T>A | XP_005265221.1:n.-486T>A | |
| XM_005265166.1:c.-692T>A | XP_005265223.1:n.-692T>A | |
| XM_011533727.1:c.-589T>A | XP_011532029.1:n.-589T>A | |
| NM_001167617.2:c.-52T>A | NP_001161089.1:n.-52T>A | |
| NM_001167618.2:c.-486T>A | NP_001161090.1:n.-486T>A | |
| NM_001167619.2:c.-394T>A | NP_001161091.1:n.-394T>A | |
| NM_001258274.2:c.-486T>A | NP_001245203.1:n.-486T>A | |
| NM_001354615.1:c.-389T>A | NP_001341544.1:n.-389T>A | |
| NM_001354616.1:c.-394T>A | NP_001341545.1:n.-394T>A | |
| NM_001354617.1:c.-486T>A | NP_001341546.1:n.-486T>A | |
| NM_001354618.1:c.-486T>A | NP_001341547.1:n.-486T>A | |
| NM_001354619.1:c.-486T>A | NP_001341548.1:n.-486T>A | |
| NM_001354620.1:c.-52T>A | NP_001341549.1:n.-52T>A | |
| NM_001354621.1:c.-579T>A | NP_001341550.1:n.-579T>A | |
| NM_001354622.1:c.-692T>A | NP_001341551.1:n.-692T>A | |
| NM_001354623.1:c.-692T>A | NP_001341552.1:n.-692T>A | |
| NM_001354624.1:c.-589T>A | NP_001341553.1:n.-589T>A | |
| NM_001354625.1:c.-492T>A | NP_001341554.1:n.-492T>A | |
| NM_001354626.1:c.-589T>A | NP_001341555.1:n.-589T>A | |
| NM_001354627.1:c.-589T>A | NP_001341556.1:n.-589T>A | |
| NM_001354628.1:c.238T>A | NP_001341557.1:p.Phe80Ile | |
| NM_001354629.1:c.208-3416T>A | NP_001341558.1:n.208-3416T>A | |
| NM_001354630.1:c.238T>A | NP_001341559.1:p.Phe80Ile | |
| XM_005265161.2:c.238T>A | XP_005265218.1:p.Phe80Ile | |
| XM_017006450.2:c.-579T>A | XP_016861939.1:n.-579T>A | |
| NM_000249.4:c.238T>A MANE Select | NP_000240.1:p.Phe80Ile | |
| NM_001167617.3:c.-52T>A | NP_001161089.1:n.-52T>A | |
| NM_001167618.3:c.-486T>A | NP_001161090.1:n.-486T>A | |
| NM_001167619.3:c.-394T>A | NP_001161091.1:n.-394T>A | |
| NM_001258271.2:c.238T>A | NP_001245200.1:p.Phe80Ile | |
| NM_001258273.2:c.-486T>A | NP_001245202.1:n.-486T>A | |
| NM_001258274.3:c.-486T>A | NP_001245203.1:n.-486T>A | |
| NM_001354615.2:c.-389T>A | NP_001341544.1:n.-389T>A | |
| NM_001354616.2:c.-394T>A | NP_001341545.1:n.-394T>A | |
| NM_001354617.2:c.-486T>A | NP_001341546.1:n.-486T>A | |
| NM_001354618.2:c.-486T>A | NP_001341547.1:n.-486T>A | |
| NM_001354619.2:c.-486T>A | NP_001341548.1:n.-486T>A | |
| NM_001354620.2:c.-52T>A | NP_001341549.1:n.-52T>A | |
| NM_001354621.2:c.-579T>A | NP_001341550.1:n.-579T>A | |
| NM_001354622.2:c.-692T>A | NP_001341551.1:n.-692T>A | |
| NM_001354623.2:c.-692T>A | NP_001341552.1:n.-692T>A | |
| NM_001354624.2:c.-589T>A | NP_001341553.1:n.-589T>A | |
| NM_001354625.2:c.-492T>A | NP_001341554.1:n.-492T>A | |
| NM_001354626.2:c.-589T>A | NP_001341555.1:n.-589T>A | |
| NM_001354627.2:c.-589T>A | NP_001341556.1:n.-589T>A | |
| NM_001354628.2:c.238T>A | NP_001341557.1:p.Phe80Ile | |
| NM_001354629.2:c.208-3416T>A | NP_001341558.1:n.208-3416T>A | |
| NM_001354630.2:c.238T>A | NP_001341559.1:p.Phe80Ile |