Linked Data
ClinVar Variation Id:
3019251
ClinVar RCV Id:
RCV003871882
dbSNP Id:
rs778980908
ExAC:
9:130263384 G / A
gnomAD v2:
9-130263384-G-A
gnomAD v4:
9-127501105-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127501105G>A , CM000671.2:g.127501105G>A | GRCh38 |
| NC_000009.11:g.130263384G>A , CM000671.1:g.130263384G>A | GRCh37 |
| NC_000009.10:g.129303205G>A | NCBI36 |
| NG_032008.1:g.54620G>A , LRG_373:g.54620G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300417.11:c.2008G>A MANE Select | ENSP00000300417.6:p.Val670Met | |
| ENST00000472068.2:c.*1732G>A | ENSP00000501555.1:n.*1732G>A | |
| ENST00000483302.6:n.2673G>A | ||
| ENST00000498513.6:c.*899G>A | ENSP00000501637.1:n.*899G>A | |
| ENST00000674511.1:n.1607G>A | ||
| ENST00000674516.1:c.*624G>A | ENSP00000502441.1:n.*624G>A | |
| ENST00000674621.1:n.1861-2268G>A | ||
| ENST00000674771.1:c.*651G>A | ENSP00000502627.1:n.*651G>A | |
| ENST00000674784.1:c.*1068G>A | ENSP00000501837.1:n.*1068G>A | |
| ENST00000674970.1:c.*1782G>A | ENSP00000502493.1:n.*1782G>A | |
| ENST00000675012.1:n.1952G>A | ||
| ENST00000675141.1:c.1909G>A | ENSP00000502420.1:p.Val637Met | |
| ENST00000675198.1:n.1888G>A | ||
| ENST00000675213.1:c.1963G>A | ENSP00000502218.1:p.Val655Met | |
| ENST00000675224.1:c.*74G>A | ENSP00000501869.1:n.*74G>A | |
| ENST00000675253.1:c.*680G>A | ENSP00000502557.1:n.*680G>A | |
| ENST00000675445.1:c.*1680G>A | ENSP00000502253.1:n.*1680G>A | |
| ENST00000675448.1:c.2008G>A | ENSP00000502167.1:p.Val670Met | |
| ENST00000675521.1:n.1918G>A | ||
| ENST00000675572.1:c.1909G>A | ENSP00000501598.1:p.Val637Met | |
| ENST00000675641.1:c.*750G>A | ENSP00000501845.1:n.*750G>A | |
| ENST00000675657.1:c.*621G>A | ENSP00000502002.1:n.*621G>A | |
| ENST00000675662.1:n.1803G>A | ||
| ENST00000675789.1:c.1828G>A | ENSP00000501954.1:p.Val610Met | |
| ENST00000675883.1:c.1927G>A | ENSP00000501592.1:p.Val643Met | |
| ENST00000675945.1:c.*649G>A | ENSP00000501835.1:n.*649G>A | |
| ENST00000676014.1:c.1951G>A | ENSP00000502058.1:p.Val651Met | |
| ENST00000676035.1:n.1670G>A | ||
| ENST00000676106.1:n.2045G>A | ||
| ENST00000676137.1:n.2038G>A | ||
| ENST00000676170.1:c.2089G>A | ENSP00000502177.1:p.Val697Met | |
| ENST00000676318.1:c.*2838G>A | ENSP00000502300.1:n.*2838G>A | |
| ENST00000676336.1:c.*621G>A | ENSP00000502686.1:n.*621G>A | |
| ENST00000676349.1:c.*1696G>A | ENSP00000502155.1:n.*1696G>A | |
| ENST00000676399.1:n.1911G>A | ||
| ENST00000676409.1:n.2068G>A | ||
| ENST00000300417.10:c.2008G>A | ENSP00000300417.6:p.Val670Met | |
| ENST00000323301.8:c.2008G>A | ENSP00000322937.4:p.Val670Met | |
| ENST00000373322.1:c.2008G>A | ENSP00000362419.1:p.Val670Met | |
| ENST00000373324.8:c.1927G>A | ENSP00000362421.4:p.Val643Met | |
| ENST00000483302.5:n.1230G>A | ||
| NM_001005373.3:c.2008G>A | NP_001005373.1:p.Val670Met | |
| NM_001005374.3:c.2008G>A | NP_001005374.1:p.Val670Met | |
| NM_001190723.2:c.1927G>A | NP_001177652.1:p.Val643Met | |
| NM_138361.5:c.2008G>A , LRG_373t1:c.2008G>A | NP_612370.3:p.Val670Met | |
| XM_006717316.2:c.1909G>A | XP_006717379.1:p.Val637Met | |
| XM_006717316.4:c.1909G>A | XP_006717379.1:p.Val637Met | |
| XM_017015283.1:c.2008G>A | XP_016870772.1:p.Val670Met | |
| XM_017015284.2:c.1219G>A | XP_016870773.1:p.Val407Met | |
| XR_001746415.2:n.2543G>A | ||
| XR_929874.3:n.2367G>A | ||
| NM_001190723.3:c.1927G>A | NP_001177652.1:p.Val643Met | |
| NM_001005373.4:c.2008G>A MANE Select | NP_001005373.1:p.Val670Met | |
| NM_001005374.4:c.2008G>A | NP_001005374.1:p.Val670Met | |
| NM_001384142.1:c.2008G>A | NP_001371071.1:p.Val670Met | |
| NM_001384143.1:c.1909G>A | NP_001371072.1:p.Val637Met | |
| NM_001384144.1:c.1219G>A | NP_001371073.1:p.Val407Met | |
| NR_168891.1:n.2537G>A | ||
| NR_168892.1:n.2361G>A |