Linked Data
ClinVar Variation Id:
140609
dbSNP Id:
rs533568822
ExAC:
18:32462094 G / T
gnomAD v2:
18-32462094-G-T
gnomAD v3:
18-34882130-G-T
gnomAD v4:
18-34882130-G-T
PubMed:
PMID:25305078
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.34882130G>T , CM000680.2:g.34882130G>T | GRCh38 |
| NC_000018.9:g.32462094G>T , CM000680.1:g.32462094G>T | GRCh37 |
| NC_000018.8:g.30716092G>T | NCBI36 |
| NG_009201.1:g.393841G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283365.14:c.1963G>T | ENSP00000283365.10:p.Val655Phe | |
| ENST00000444659.6:c.2224G>T MANE Select | ENSP00000405819.2:p.Val742Phe | |
| ENST00000680767.2:c.1765G>T | ENSP00000505379.2:p.Val589Phe | |
| ENST00000682129.1:c.1180G>T | ENSP00000506763.1:p.Val394Phe | |
| ENST00000683379.1:c.1972G>T | ENSP00000507995.1:p.Val658Phe | |
| ENST00000683705.1:c.1963G>T | ENSP00000507911.1:p.Val655Phe | |
| ENST00000684266.1:c.2053G>T | ENSP00000507106.1:p.Val685Phe | |
| ENST00000684359.1:c.1972G>T | ENSP00000507300.1:p.Val658Phe | |
| ENST00000684377.1:c.1768G>T | ENSP00000506757.1:p.Val590Phe | |
| ENST00000679372.1:c.*2064G>T | ENSP00000506098.1:n.*2064G>T | |
| ENST00000679796.1:c.2224G>T | ENSP00000506659.1:p.Val742Phe | |
| ENST00000680767.1:c.2011G>T | ENSP00000505379.1:p.Val671Phe | |
| ENST00000680822.1:c.2053G>T | ENSP00000505718.1:p.Val685Phe | |
| ENST00000681241.1:c.1963G>T | ENSP00000506495.1:p.Val655Phe | |
| ENST00000681470.1:c.1960G>T | ENSP00000505722.1:p.Val654Phe | |
| ENST00000681759.1:c.1123G>T | ENSP00000506633.1:p.Val375Phe | |
| ENST00000269192.11:c.1270G>T | ENSP00000269192.7:p.Val424Phe | |
| ENST00000283365.13:c.1972G>T | ENSP00000283365.9:p.Val658Phe | |
| ENST00000399113.7:c.2143G>T | ENSP00000382064.3:p.Val715Phe | |
| ENST00000399121.9:c.1984G>T | ENSP00000382072.5:p.Val662Phe | |
| ENST00000444659.5:c.2143G>T | ENSP00000405819.1:p.Val715Phe | |
| ENST00000556414.7:c.1099G>T | ENSP00000452255.2:p.Val367Phe | |
| ENST00000590831.2:c.421G>T | ENSP00000471143.1:p.Val141Phe | |
| ENST00000591182.5:c.1087G>T | ENSP00000467720.1:p.Val363Phe | |
| ENST00000592449.1:n.42G>T | ||
| ENST00000595022.5:c.1963G>T | ENSP00000473078.1:p.Val655Phe | |
| ENST00000598142.5:c.1972G>T | ENSP00000470716.1:p.Val658Phe | |
| ENST00000598334.5:c.1963G>T | ENSP00000470152.1:p.Val655Phe | |
| ENST00000601125.5:c.1009G>T | ENSP00000470247.1:p.Val337Phe | |
| NM_001198938.1:c.1963G>T | NP_001185867.1:p.Val655Phe | |
| NM_001198939.1:c.1984G>T | NP_001185868.1:p.Val662Phe | |
| NM_001198940.1:c.1963G>T | NP_001185869.1:p.Val655Phe | |
| NM_001198942.1:c.1270G>T | NP_001185871.1:p.Val424Phe | |
| NM_001198943.1:c.1213G>T | NP_001185872.1:p.Val405Phe | |
| NM_001198944.1:c.1099G>T | NP_001185873.1:p.Val367Phe | |
| NM_001390.4:c.2143G>T | NP_001381.2:p.Val715Phe | |
| NM_032975.3:c.1972G>T | NP_116757.2:p.Val658Phe | |
| NM_032980.3:c.1087G>T | NP_116762.2:p.Val363Phe | |
| XM_005258207.2:c.2245G>T | XP_005258264.1:p.Val749Phe | |
| XM_005258212.2:c.2155G>T | XP_005258269.1:p.Val719Phe | |
| XM_005258216.3:c.2224G>T | XP_005258273.1:p.Val742Phe | |
| XM_005258217.2:c.2074G>T | XP_005258274.1:p.Val692Phe | |
| XM_005258218.2:c.2071G>T | XP_005258275.1:p.Val691Phe | |
| XM_005258219.3:c.2155G>T | XP_005258276.1:p.Val719Phe | |
| XM_005258220.2:c.1984G>T | XP_005258277.1:p.Val662Phe | |
| XM_005258221.3:c.2053G>T | XP_005258278.1:p.Val685Phe | |
| XM_005258222.3:c.2041G>T | XP_005258279.1:p.Val681Phe | |
| XM_005258224.2:c.1291G>T | XP_005258281.1:p.Val431Phe | |
| XM_006722395.2:c.2254G>T | XP_006722458.1:p.Val752Phe | |
| XM_006722396.2:c.2254G>T | XP_006722459.1:p.Val752Phe | |
| XM_006722397.2:c.2254G>T | XP_006722460.1:p.Val752Phe | |
| XM_006722398.2:c.2254G>T | XP_006722461.1:p.Val752Phe | |
| XM_006722399.2:c.2233G>T | XP_006722462.1:p.Val745Phe | |
| XM_006722400.2:c.2164G>T | XP_006722463.1:p.Val722Phe | |
| XM_006722401.2:c.2161G>T | XP_006722464.1:p.Val721Phe | |
| XM_006722402.2:c.2254G>T | XP_006722465.1:p.Val752Phe | |
| XM_006722403.2:c.2254G>T | XP_006722466.1:p.Val752Phe | |
| XM_006722404.2:c.2233G>T | XP_006722467.1:p.Val745Phe | |
| XM_006722405.2:c.2083G>T | XP_006722468.1:p.Val695Phe | |
| XM_006722406.1:c.2143G>T | XP_006722469.1:p.Val715Phe | |
| XM_006722407.2:c.1993G>T | XP_006722470.1:p.Val665Phe | |
| XM_006722408.2:c.1972G>T | XP_006722471.1:p.Val658Phe | |
| XM_006722411.2:c.1300G>T | XP_006722474.1:p.Val434Phe | |
| XM_006722412.2:c.1120G>T | XP_006722475.1:p.Val374Phe | |
| XM_006722413.2:c.1030G>T | XP_006722476.1:p.Val344Phe | |
| XM_006722414.2:c.1027G>T | XP_006722477.1:p.Val343Phe | |
| XM_011525851.1:c.2254G>T | XP_011524153.1:p.Val752Phe | |
| XM_011525852.1:c.2251G>T | XP_011524154.1:p.Val751Phe | |
| XM_005258221.5:c.2053G>T | XP_005258278.1:p.Val685Phe | |
| XM_017025575.2:c.2053G>T | XP_016881064.1:p.Val685Phe | |
| XM_017025576.2:c.1972G>T | XP_016881065.1:p.Val658Phe | |
| XM_017025577.2:c.1963G>T | XP_016881066.1:p.Val655Phe | |
| XM_017025578.2:c.2053G>T | XP_016881067.1:p.Val685Phe | |
| XM_017025579.2:c.2053G>T | XP_016881068.1:p.Val685Phe | |
| XM_017025580.1:c.2053G>T | XP_016881069.1:p.Val685Phe | |
| XM_017025581.2:c.2053G>T | XP_016881070.1:p.Val685Phe | |
| XM_017025582.2:c.2053G>T | XP_016881071.1:p.Val685Phe | |
| XM_017025584.2:c.1972G>T | XP_016881073.1:p.Val658Phe | |
| XM_017025585.2:c.1969G>T | XP_016881074.1:p.Val657Phe | |
| XM_017025586.2:c.1969G>T | XP_016881075.1:p.Val657Phe | |
| XM_017025587.2:c.1963G>T | XP_016881076.1:p.Val655Phe | |
| XM_017025588.2:c.1963G>T | XP_016881077.1:p.Val655Phe | |
| XM_017025589.2:c.1963G>T | XP_016881078.1:p.Val655Phe | |
| XM_017025590.2:c.1963G>T | XP_016881079.1:p.Val655Phe | |
| XM_017025591.2:c.1963G>T | XP_016881080.1:p.Val655Phe | |
| XM_017025593.2:c.1960G>T | XP_016881082.1:p.Val654Phe | |
| XM_017025594.2:c.1960G>T | XP_016881083.1:p.Val654Phe | |
| XM_017025599.2:c.1009G>T | XP_016881088.1:p.Val337Phe | |
| XM_024451096.1:c.1960G>T | XP_024306864.1:p.Val654Phe | |
| XM_024451097.1:c.2050G>T | XP_024306865.1:p.Val684Phe | |
| XR_001753152.1:n.2626G>T | ||
| XR_001753153.1:n.2626G>T | ||
| XR_001753154.1:n.2716G>T | ||
| XR_001753155.1:n.2626G>T | ||
| XR_001753156.1:n.2716G>T | ||
| XR_001753157.1:n.2623G>T | ||
| XR_001753159.1:n.2713G>T | ||
| XR_001753160.1:n.2623G>T | ||
| XR_001753161.1:n.2713G>T | ||
| XR_002958166.1:n.2233G>T | ||
| NM_001198938.2:c.1963G>T | NP_001185867.1:p.Val655Phe | |
| NM_001198939.2:c.1984G>T | NP_001185868.1:p.Val662Phe | |
| NM_001198940.2:c.1963G>T | NP_001185869.1:p.Val655Phe | |
| NM_032980.4:c.1087G>T | NP_116762.2:p.Val363Phe | |
| NM_001386753.1:c.1963G>T | NP_001373682.1:p.Val655Phe | |
| NM_001386754.1:c.2053G>T | NP_001373683.1:p.Val685Phe | |
| NM_001386755.1:c.2053G>T | NP_001373684.1:p.Val685Phe | |
| NM_001386756.1:c.2053G>T | NP_001373685.1:p.Val685Phe | |
| NM_001386757.1:c.2053G>T | NP_001373686.1:p.Val685Phe | |
| NM_001386758.1:c.2053G>T | NP_001373687.1:p.Val685Phe | |
| NM_001386759.1:c.2053G>T | NP_001373688.1:p.Val685Phe | |
| NM_001386760.1:c.2050G>T | NP_001373689.1:p.Val684Phe | |
| NM_001386761.1:c.1972G>T | NP_001373690.1:p.Val658Phe | |
| NM_001386762.1:c.1969G>T | NP_001373691.1:p.Val657Phe | |
| NM_001386763.1:c.1963G>T | NP_001373692.1:p.Val655Phe | |
| NM_001386764.1:c.1963G>T | NP_001373693.1:p.Val655Phe | |
| NM_001386765.1:c.1963G>T | NP_001373694.1:p.Val655Phe | |
| NM_001386766.1:c.1963G>T | NP_001373695.1:p.Val655Phe | |
| NM_001386767.1:c.1963G>T | NP_001373696.1:p.Val655Phe | |
| NM_001386768.1:c.1960G>T | NP_001373697.1:p.Val654Phe | |
| NM_001386769.1:c.1960G>T | NP_001373698.1:p.Val654Phe | |
| NM_001386788.1:c.2224G>T | NP_001373717.1:p.Val742Phe | |
| NM_001386795.1:c.2224G>T MANE Select | NP_001373724.1:p.Val742Phe | |
| NM_001390.5:c.2143G>T | NP_001381.2:p.Val715Phe | |
| NM_032975.4:c.1972G>T | NP_116757.2:p.Val658Phe |