Linked Data
ClinVar Variation Id:
1628233
ClinVar RCV Id:
RCV002114381
dbSNP Id:
rs974205215
gnomAD v3:
9-127501092-T-C
gnomAD v4:
9-127501092-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127501092T>C , CM000671.2:g.127501092T>C | GRCh38 |
| NC_000009.11:g.130263371T>C , CM000671.1:g.130263371T>C | GRCh37 |
| NC_000009.10:g.129303192T>C | NCBI36 |
| NG_032008.1:g.54607T>C , LRG_373:g.54607T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300417.11:c.1995T>C MANE Select | ENSP00000300417.6:p.Pro665= | |
| ENST00000472068.2:c.*1719T>C | ENSP00000501555.1:n.*1719T>C | |
| ENST00000483302.6:n.2660T>C | ||
| ENST00000498513.6:c.*886T>C | ENSP00000501637.1:n.*886T>C | |
| ENST00000674511.1:n.1594T>C | ||
| ENST00000674516.1:c.*611T>C | ENSP00000502441.1:n.*611T>C | |
| ENST00000674621.1:n.1861-2281T>C | ||
| ENST00000674771.1:c.*638T>C | ENSP00000502627.1:n.*638T>C | |
| ENST00000674784.1:c.*1055T>C | ENSP00000501837.1:n.*1055T>C | |
| ENST00000674970.1:c.*1769T>C | ENSP00000502493.1:n.*1769T>C | |
| ENST00000675012.1:n.1939T>C | ||
| ENST00000675141.1:c.1896T>C | ENSP00000502420.1:p.Pro632= | |
| ENST00000675198.1:n.1875T>C | ||
| ENST00000675213.1:c.1950T>C | ENSP00000502218.1:p.Pro650= | |
| ENST00000675224.1:c.*61T>C | ENSP00000501869.1:n.*61T>C | |
| ENST00000675253.1:c.*667T>C | ENSP00000502557.1:n.*667T>C | |
| ENST00000675445.1:c.*1667T>C | ENSP00000502253.1:n.*1667T>C | |
| ENST00000675448.1:c.1995T>C | ENSP00000502167.1:p.Pro665= | |
| ENST00000675521.1:n.1905T>C | ||
| ENST00000675572.1:c.1896T>C | ENSP00000501598.1:p.Pro632= | |
| ENST00000675641.1:c.*737T>C | ENSP00000501845.1:n.*737T>C | |
| ENST00000675657.1:c.*608T>C | ENSP00000502002.1:n.*608T>C | |
| ENST00000675662.1:n.1790T>C | ||
| ENST00000675789.1:c.1815T>C | ENSP00000501954.1:p.Pro605= | |
| ENST00000675883.1:c.1914T>C | ENSP00000501592.1:p.Pro638= | |
| ENST00000675945.1:c.*636T>C | ENSP00000501835.1:n.*636T>C | |
| ENST00000676014.1:c.1938T>C | ENSP00000502058.1:p.Pro646= | |
| ENST00000676035.1:n.1657T>C | ||
| ENST00000676106.1:n.2032T>C | ||
| ENST00000676137.1:n.2025T>C | ||
| ENST00000676170.1:c.2076T>C | ENSP00000502177.1:p.Pro692= | |
| ENST00000676318.1:c.*2825T>C | ENSP00000502300.1:n.*2825T>C | |
| ENST00000676336.1:c.*608T>C | ENSP00000502686.1:n.*608T>C | |
| ENST00000676349.1:c.*1683T>C | ENSP00000502155.1:n.*1683T>C | |
| ENST00000676399.1:n.1898T>C | ||
| ENST00000676409.1:n.2055T>C | ||
| ENST00000300417.10:c.1995T>C | ENSP00000300417.6:p.Pro665= | |
| ENST00000323301.8:c.1995T>C | ENSP00000322937.4:p.Pro665= | |
| ENST00000373322.1:c.1995T>C | ENSP00000362419.1:p.Pro665= | |
| ENST00000373324.8:c.1914T>C | ENSP00000362421.4:p.Pro638= | |
| ENST00000483302.5:n.1217T>C | ||
| NM_001005373.3:c.1995T>C | NP_001005373.1:p.Pro665= | |
| NM_001005374.3:c.1995T>C | NP_001005374.1:p.Pro665= | |
| NM_001190723.2:c.1914T>C | NP_001177652.1:p.Pro638= | |
| NM_138361.5:c.1995T>C , LRG_373t1:c.1995T>C | NP_612370.3:p.Pro665= | |
| XM_006717316.2:c.1896T>C | XP_006717379.1:p.Pro632= | |
| XM_006717316.4:c.1896T>C | XP_006717379.1:p.Pro632= | |
| XM_017015283.1:c.1995T>C | XP_016870772.1:p.Pro665= | |
| XM_017015284.2:c.1206T>C | XP_016870773.1:p.Pro402= | |
| XR_001746415.2:n.2530T>C | ||
| XR_929874.3:n.2354T>C | ||
| NM_001190723.3:c.1914T>C | NP_001177652.1:p.Pro638= | |
| NM_001005373.4:c.1995T>C MANE Select | NP_001005373.1:p.Pro665= | |
| NM_001005374.4:c.1995T>C | NP_001005374.1:p.Pro665= | |
| NM_001384142.1:c.1995T>C | NP_001371071.1:p.Pro665= | |
| NM_001384143.1:c.1896T>C | NP_001371072.1:p.Pro632= | |
| NM_001384144.1:c.1206T>C | NP_001371073.1:p.Pro402= | |
| NR_168891.1:n.2524T>C | ||
| NR_168892.1:n.2348T>C |