Linked Data
ClinVar Variation Id:
834369
dbSNP Id:
rs748185533
ExAC:
9:130263385 T / C
gnomAD v2:
9-130263385-T-C
gnomAD v3:
9-127501106-T-C
gnomAD v4:
9-127501106-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127501106T>C , CM000671.2:g.127501106T>C | GRCh38 |
| NC_000009.11:g.130263385T>C , CM000671.1:g.130263385T>C | GRCh37 |
| NC_000009.10:g.129303206T>C | NCBI36 |
| NG_032008.1:g.54621T>C , LRG_373:g.54621T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300417.11:c.2009T>C MANE Select | ENSP00000300417.6:p.Val670Ala | |
| ENST00000472068.2:c.*1733T>C | ENSP00000501555.1:n.*1733T>C | |
| ENST00000483302.6:n.2674T>C | ||
| ENST00000498513.6:c.*900T>C | ENSP00000501637.1:n.*900T>C | |
| ENST00000674511.1:n.1608T>C | ||
| ENST00000674516.1:c.*625T>C | ENSP00000502441.1:n.*625T>C | |
| ENST00000674621.1:n.1861-2267T>C | ||
| ENST00000674771.1:c.*652T>C | ENSP00000502627.1:n.*652T>C | |
| ENST00000674784.1:c.*1069T>C | ENSP00000501837.1:n.*1069T>C | |
| ENST00000674970.1:c.*1783T>C | ENSP00000502493.1:n.*1783T>C | |
| ENST00000675012.1:n.1953T>C | ||
| ENST00000675141.1:c.1910T>C | ENSP00000502420.1:p.Val637Ala | |
| ENST00000675198.1:n.1889T>C | ||
| ENST00000675213.1:c.1964T>C | ENSP00000502218.1:p.Val655Ala | |
| ENST00000675224.1:c.*75T>C | ENSP00000501869.1:n.*75T>C | |
| ENST00000675253.1:c.*681T>C | ENSP00000502557.1:n.*681T>C | |
| ENST00000675445.1:c.*1681T>C | ENSP00000502253.1:n.*1681T>C | |
| ENST00000675448.1:c.2009T>C | ENSP00000502167.1:p.Val670Ala | |
| ENST00000675521.1:n.1919T>C | ||
| ENST00000675572.1:c.1910T>C | ENSP00000501598.1:p.Val637Ala | |
| ENST00000675641.1:c.*751T>C | ENSP00000501845.1:n.*751T>C | |
| ENST00000675657.1:c.*622T>C | ENSP00000502002.1:n.*622T>C | |
| ENST00000675662.1:n.1804T>C | ||
| ENST00000675789.1:c.1829T>C | ENSP00000501954.1:p.Val610Ala | |
| ENST00000675883.1:c.1928T>C | ENSP00000501592.1:p.Val643Ala | |
| ENST00000675945.1:c.*650T>C | ENSP00000501835.1:n.*650T>C | |
| ENST00000676014.1:c.1952T>C | ENSP00000502058.1:p.Val651Ala | |
| ENST00000676035.1:n.1671T>C | ||
| ENST00000676106.1:n.2046T>C | ||
| ENST00000676137.1:n.2039T>C | ||
| ENST00000676170.1:c.2090T>C | ENSP00000502177.1:p.Val697Ala | |
| ENST00000676318.1:c.*2839T>C | ENSP00000502300.1:n.*2839T>C | |
| ENST00000676336.1:c.*622T>C | ENSP00000502686.1:n.*622T>C | |
| ENST00000676349.1:c.*1697T>C | ENSP00000502155.1:n.*1697T>C | |
| ENST00000676399.1:n.1912T>C | ||
| ENST00000676409.1:n.2069T>C | ||
| ENST00000300417.10:c.2009T>C | ENSP00000300417.6:p.Val670Ala | |
| ENST00000323301.8:c.2009T>C | ENSP00000322937.4:p.Val670Ala | |
| ENST00000373322.1:c.2009T>C | ENSP00000362419.1:p.Val670Ala | |
| ENST00000373324.8:c.1928T>C | ENSP00000362421.4:p.Val643Ala | |
| ENST00000483302.5:n.1231T>C | ||
| NM_001005373.3:c.2009T>C | NP_001005373.1:p.Val670Ala | |
| NM_001005374.3:c.2009T>C | NP_001005374.1:p.Val670Ala | |
| NM_001190723.2:c.1928T>C | NP_001177652.1:p.Val643Ala | |
| NM_138361.5:c.2009T>C , LRG_373t1:c.2009T>C | NP_612370.3:p.Val670Ala | |
| XM_006717316.2:c.1910T>C | XP_006717379.1:p.Val637Ala | |
| XM_006717316.4:c.1910T>C | XP_006717379.1:p.Val637Ala | |
| XM_017015283.1:c.2009T>C | XP_016870772.1:p.Val670Ala | |
| XM_017015284.2:c.1220T>C | XP_016870773.1:p.Val407Ala | |
| XR_001746415.2:n.2544T>C | ||
| XR_929874.3:n.2368T>C | ||
| NM_001190723.3:c.1928T>C | NP_001177652.1:p.Val643Ala | |
| NM_001005373.4:c.2009T>C MANE Select | NP_001005373.1:p.Val670Ala | |
| NM_001005374.4:c.2009T>C | NP_001005374.1:p.Val670Ala | |
| NM_001384142.1:c.2009T>C | NP_001371071.1:p.Val670Ala | |
| NM_001384143.1:c.1910T>C | NP_001371072.1:p.Val637Ala | |
| NM_001384144.1:c.1220T>C | NP_001371073.1:p.Val407Ala | |
| NR_168891.1:n.2538T>C | ||
| NR_168892.1:n.2362T>C |