Linked Data
ClinVar Variation Id:
230267
dbSNP Id:
rs752091655
ExAC:
5:112177788 G / A
gnomAD v2:
5-112177788-G-A
gnomAD v3:
5-112842091-G-A
gnomAD v4:
5-112842091-G-A
COSMIC:
COSM1432464
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112842091G>A , CM000667.2:g.112842091G>A | GRCh38 |
| NC_000005.9:g.112177788G>A , CM000667.1:g.112177788G>A | GRCh37 |
| NC_000005.8:g.112205687G>A | NCBI36 |
| NG_008481.4:g.154571G>A , LRG_130:g.154571G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.6551G>A | ENSP00000473355.2:p.Arg2184Gln | |
| ENST00000505350.2:c.*6503G>A | ENSP00000481752.1:n.*6503G>A | |
| ENST00000507379.6:c.6443G>A | ENSP00000423224.2:p.Arg2148Gln | |
| ENST00000509732.6:c.6497G>A | ENSP00000426541.2:p.Arg2166Gln | |
| ENST00000512211.7:c.6497G>A | ENSP00000423828.3:p.Arg2166Gln | |
| ENST00000257430.9:c.6497G>A MANE Select | ENSP00000257430.4:p.Arg2166Gln | |
| ENST00000257430.8:c.6497G>A | ENSP00000257430.4:p.Arg2166Gln | |
| ENST00000508376.6:c.6497G>A | ENSP00000427089.2:p.Arg2166Gln | |
| ENST00000508624.5:c.*5819G>A | ENSP00000424265.1:n.*5819G>A | |
| ENST00000520401.1:c.230+13119G>A | ||
| NM_000038.5:c.6497G>A | NP_000029.2:p.Arg2166Gln | |
| NM_001127510.2:c.6497G>A | NP_001120982.1:p.Arg2166Gln | |
| NM_001127511.2:c.6443G>A | NP_001120983.2:p.Arg2148Gln | |
| NM_001354895.1:c.6497G>A | NP_001341824.1:p.Arg2166Gln | |
| NM_001354896.1:c.6551G>A | NP_001341825.1:p.Arg2184Gln | |
| NM_001354897.1:c.6527G>A | NP_001341826.1:p.Arg2176Gln | |
| NM_001354898.1:c.6422G>A | NP_001341827.1:p.Arg2141Gln | |
| NM_001354899.1:c.6413G>A | NP_001341828.1:p.Arg2138Gln | |
| NM_001354900.1:c.6374G>A | NP_001341829.1:p.Arg2125Gln | |
| NM_001354901.1:c.6320G>A | NP_001341830.1:p.Arg2107Gln | |
| NM_001354902.1:c.6224G>A | NP_001341831.1:p.Arg2075Gln | |
| NM_001354903.1:c.6194G>A | NP_001341832.1:p.Arg2065Gln | |
| NM_001354904.1:c.6119G>A | NP_001341833.1:p.Arg2040Gln | |
| NM_001354905.1:c.6017G>A | NP_001341834.1:p.Arg2006Gln | |
| NM_001354906.1:c.5648G>A | NP_001341835.1:p.Arg1883Gln | |
| NM_000038.6:c.6497G>A MANE Select | NP_000029.2:p.Arg2166Gln | |
| NM_001127510.3:c.6497G>A | NP_001120982.1:p.Arg2166Gln | |
| NM_001127511.3:c.6443G>A | NP_001120983.2:p.Arg2148Gln | |
| NM_001354895.2:c.6497G>A | NP_001341824.1:p.Arg2166Gln | |
| NM_001354896.2:c.6551G>A | NP_001341825.1:p.Arg2184Gln | |
| NM_001354897.2:c.6527G>A | NP_001341826.1:p.Arg2176Gln | |
| NM_001354898.2:c.6422G>A | NP_001341827.1:p.Arg2141Gln | |
| NM_001354899.2:c.6413G>A | NP_001341828.1:p.Arg2138Gln | |
| NM_001354900.2:c.6374G>A | NP_001341829.1:p.Arg2125Gln | |
| NM_001354901.2:c.6320G>A | NP_001341830.1:p.Arg2107Gln | |
| NM_001354902.2:c.6224G>A | NP_001341831.1:p.Arg2075Gln | |
| NM_001354903.2:c.6194G>A | NP_001341832.1:p.Arg2065Gln | |
| NM_001354904.2:c.6119G>A | NP_001341833.1:p.Arg2040Gln | |
| NM_001354905.2:c.6017G>A | NP_001341834.1:p.Arg2006Gln | |
| NM_001354906.2:c.5648G>A | NP_001341835.1:p.Arg1883Gln |