Linked Data
ClinVar Variation Id:
948931
ClinVar RCV Id:
RCV001220288
dbSNP Id:
rs749204843
ExAC:
9:130263369 C / G
gnomAD v2:
9-130263369-C-G
gnomAD v3:
9-127501090-C-G
gnomAD v4:
9-127501090-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127501090C>G , CM000671.2:g.127501090C>G | GRCh38 |
| NC_000009.11:g.130263369C>G , CM000671.1:g.130263369C>G | GRCh37 |
| NC_000009.10:g.129303190C>G | NCBI36 |
| NG_032008.1:g.54605C>G , LRG_373:g.54605C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300417.11:c.1993C>G MANE Select | ENSP00000300417.6:p.Pro665Ala | |
| ENST00000472068.2:c.*1717C>G | ENSP00000501555.1:n.*1717C>G | |
| ENST00000483302.6:n.2658C>G | ||
| ENST00000498513.6:c.*884C>G | ENSP00000501637.1:n.*884C>G | |
| ENST00000674511.1:n.1592C>G | ||
| ENST00000674516.1:c.*609C>G | ENSP00000502441.1:n.*609C>G | |
| ENST00000674621.1:n.1861-2283C>G | ||
| ENST00000674771.1:c.*636C>G | ENSP00000502627.1:n.*636C>G | |
| ENST00000674784.1:c.*1053C>G | ENSP00000501837.1:n.*1053C>G | |
| ENST00000674970.1:c.*1767C>G | ENSP00000502493.1:n.*1767C>G | |
| ENST00000675012.1:n.1937C>G | ||
| ENST00000675141.1:c.1894C>G | ENSP00000502420.1:p.Pro632Ala | |
| ENST00000675198.1:n.1873C>G | ||
| ENST00000675213.1:c.1948C>G | ENSP00000502218.1:p.Pro650Ala | |
| ENST00000675224.1:c.*59C>G | ENSP00000501869.1:n.*59C>G | |
| ENST00000675253.1:c.*665C>G | ENSP00000502557.1:n.*665C>G | |
| ENST00000675445.1:c.*1665C>G | ENSP00000502253.1:n.*1665C>G | |
| ENST00000675448.1:c.1993C>G | ENSP00000502167.1:p.Pro665Ala | |
| ENST00000675521.1:n.1903C>G | ||
| ENST00000675572.1:c.1894C>G | ENSP00000501598.1:p.Pro632Ala | |
| ENST00000675641.1:c.*735C>G | ENSP00000501845.1:n.*735C>G | |
| ENST00000675657.1:c.*606C>G | ENSP00000502002.1:n.*606C>G | |
| ENST00000675662.1:n.1788C>G | ||
| ENST00000675789.1:c.1813C>G | ENSP00000501954.1:p.Pro605Ala | |
| ENST00000675883.1:c.1912C>G | ENSP00000501592.1:p.Pro638Ala | |
| ENST00000675945.1:c.*634C>G | ENSP00000501835.1:n.*634C>G | |
| ENST00000676014.1:c.1936C>G | ENSP00000502058.1:p.Pro646Ala | |
| ENST00000676035.1:n.1655C>G | ||
| ENST00000676106.1:n.2030C>G | ||
| ENST00000676137.1:n.2023C>G | ||
| ENST00000676170.1:c.2074C>G | ENSP00000502177.1:p.Pro692Ala | |
| ENST00000676318.1:c.*2823C>G | ENSP00000502300.1:n.*2823C>G | |
| ENST00000676336.1:c.*606C>G | ENSP00000502686.1:n.*606C>G | |
| ENST00000676349.1:c.*1681C>G | ENSP00000502155.1:n.*1681C>G | |
| ENST00000676399.1:n.1896C>G | ||
| ENST00000676409.1:n.2053C>G | ||
| ENST00000300417.10:c.1993C>G | ENSP00000300417.6:p.Pro665Ala | |
| ENST00000323301.8:c.1993C>G | ENSP00000322937.4:p.Pro665Ala | |
| ENST00000373322.1:c.1993C>G | ENSP00000362419.1:p.Pro665Ala | |
| ENST00000373324.8:c.1912C>G | ENSP00000362421.4:p.Pro638Ala | |
| ENST00000483302.5:n.1215C>G | ||
| NM_001005373.3:c.1993C>G | NP_001005373.1:p.Pro665Ala | |
| NM_001005374.3:c.1993C>G | NP_001005374.1:p.Pro665Ala | |
| NM_001190723.2:c.1912C>G | NP_001177652.1:p.Pro638Ala | |
| NM_138361.5:c.1993C>G , LRG_373t1:c.1993C>G | NP_612370.3:p.Pro665Ala | |
| XM_006717316.2:c.1894C>G | XP_006717379.1:p.Pro632Ala | |
| XM_006717316.4:c.1894C>G | XP_006717379.1:p.Pro632Ala | |
| XM_017015283.1:c.1993C>G | XP_016870772.1:p.Pro665Ala | |
| XM_017015284.2:c.1204C>G | XP_016870773.1:p.Pro402Ala | |
| XR_001746415.2:n.2528C>G | ||
| XR_929874.3:n.2352C>G | ||
| NM_001190723.3:c.1912C>G | NP_001177652.1:p.Pro638Ala | |
| NM_001005373.4:c.1993C>G MANE Select | NP_001005373.1:p.Pro665Ala | |
| NM_001005374.4:c.1993C>G | NP_001005374.1:p.Pro665Ala | |
| NM_001384142.1:c.1993C>G | NP_001371071.1:p.Pro665Ala | |
| NM_001384143.1:c.1894C>G | NP_001371072.1:p.Pro632Ala | |
| NM_001384144.1:c.1204C>G | NP_001371073.1:p.Pro402Ala | |
| NR_168891.1:n.2522C>G | ||
| NR_168892.1:n.2346C>G |