Linked Data
ClinVar Variation Id:
155754
dbSNP Id:
rs200595164
ExAC:
9:130243464 A / G
gnomAD v2:
9-130243464-A-G
gnomAD v3:
9-127481185-A-G
gnomAD v4:
9-127481185-A-G
COSMIC:
COSM3325525
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127481185A>G , CM000671.2:g.127481185A>G | GRCh38 |
| NC_000009.11:g.130243464A>G , CM000671.1:g.130243464A>G | GRCh37 |
| NC_000009.10:g.129283285A>G | NCBI36 |
| NG_032008.1:g.34700A>G , LRG_373:g.34700A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300417.11:c.1046A>G MANE Select | ENSP00000300417.6:p.Gln349Arg | |
| ENST00000472068.2:c.*769A>G | ENSP00000501555.1:n.*769A>G | |
| ENST00000498513.6:c.299A>G | ENSP00000501637.1:p.Gln100Arg | |
| ENST00000674511.1:n.921A>G | ||
| ENST00000674516.1:c.1046A>G | ENSP00000502441.1:p.Gln349Arg | |
| ENST00000674621.1:n.952A>G | ||
| ENST00000674771.1:c.1046A>G | ENSP00000502627.1:p.Gln349Arg | |
| ENST00000674784.1:c.*276A>G | ENSP00000501837.1:n.*276A>G | |
| ENST00000674970.1:c.*820A>G | ENSP00000502493.1:n.*820A>G | |
| ENST00000675012.1:n.926A>G | ||
| ENST00000675141.1:c.1046A>G | ENSP00000502420.1:p.Gln349Arg | |
| ENST00000675198.1:n.948A>G | ||
| ENST00000675213.1:c.1001A>G | ENSP00000502218.1:p.Gln334Arg | |
| ENST00000675224.1:c.1046A>G | ENSP00000501869.1:p.Gln349Arg | |
| ENST00000675253.1:c.1046A>G | ENSP00000502557.1:p.Gln349Arg | |
| ENST00000675445.1:c.*718A>G | ENSP00000502253.1:n.*718A>G | |
| ENST00000675448.1:c.1046A>G | ENSP00000502167.1:p.Gln349Arg | |
| ENST00000675521.1:n.898A>G | ||
| ENST00000675572.1:c.1046A>G | ENSP00000501598.1:p.Gln349Arg | |
| ENST00000675641.1:c.1046A>G | ENSP00000501845.1:p.Gln349Arg | |
| ENST00000675657.1:c.1046A>G | ENSP00000502002.1:p.Gln349Arg | |
| ENST00000675662.1:n.939A>G | ||
| ENST00000675789.1:c.1046A>G | ENSP00000501954.1:p.Gln349Arg | |
| ENST00000675883.1:c.1046A>G | ENSP00000501592.1:p.Gln349Arg | |
| ENST00000675945.1:c.1046A>G | ENSP00000501835.1:p.Gln349Arg | |
| ENST00000676014.1:c.989A>G | ENSP00000502058.1:p.Gln330Arg | |
| ENST00000676035.1:n.807A>G | ||
| ENST00000676106.1:n.851A>G | ||
| ENST00000676137.1:n.937A>G | ||
| ENST00000676170.1:c.1046A>G | ENSP00000502177.1:p.Gln349Arg | |
| ENST00000676318.1:c.1046A>G | ENSP00000502300.1:p.Gln349Arg | |
| ENST00000676336.1:c.824A>G | ENSP00000502686.1:p.Gln275Arg | |
| ENST00000676349.1:c.*815A>G | ENSP00000502155.1:n.*815A>G | |
| ENST00000676399.1:n.944A>G | ||
| ENST00000676409.1:n.925A>G | ||
| ENST00000300417.10:c.1046A>G | ENSP00000300417.6:p.Gln349Arg | |
| ENST00000323301.8:c.1046A>G | ENSP00000322937.4:p.Gln349Arg | |
| ENST00000373322.1:c.1046A>G | ENSP00000362419.1:p.Gln349Arg | |
| ENST00000373324.8:c.1046A>G | ENSP00000362421.4:p.Gln349Arg | |
| ENST00000472068.1:n.33A>G | ||
| ENST00000483302.5:n.263A>G | ||
| ENST00000498513.5:n.299A>G | ||
| NM_001005373.3:c.1046A>G | NP_001005373.1:p.Gln349Arg | |
| NM_001005374.3:c.1046A>G | NP_001005374.1:p.Gln349Arg | |
| NM_001190723.2:c.1046A>G | NP_001177652.1:p.Gln349Arg | |
| NM_138361.5:c.1046A>G , LRG_373t1:c.1046A>G | NP_612370.3:p.Gln349Arg | |
| XM_006717316.2:c.1046A>G | XP_006717379.1:p.Gln349Arg | |
| XR_929874.1:n.1418A>G | ||
| XM_006717316.4:c.1046A>G | XP_006717379.1:p.Gln349Arg | |
| XM_017015283.1:c.1046A>G | XP_016870772.1:p.Gln349Arg | |
| XM_017015284.2:c.257A>G | XP_016870773.1:p.Gln86Arg | |
| XR_001746415.2:n.1400A>G | ||
| XR_929874.3:n.1400A>G | ||
| NM_001190723.3:c.1046A>G | NP_001177652.1:p.Gln349Arg | |
| NM_001005373.4:c.1046A>G MANE Select | NP_001005373.1:p.Gln349Arg | |
| NM_001005374.4:c.1046A>G | NP_001005374.1:p.Gln349Arg | |
| NM_001384142.1:c.1046A>G | NP_001371071.1:p.Gln349Arg | |
| NM_001384143.1:c.1046A>G | NP_001371072.1:p.Gln349Arg | |
| NM_001384144.1:c.257A>G | NP_001371073.1:p.Gln86Arg | |
| NR_168891.1:n.1394A>G | ||
| NR_168892.1:n.1394A>G |