Linked Data
ClinVar Variation Id:
411357
dbSNP Id:
rs745692178
ExAC:
5:112173860 G / A
gnomAD v2:
5-112173860-G-A
gnomAD v4:
5-112838163-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112838163G>A , CM000667.2:g.112838163G>A | GRCh38 |
| NC_000005.9:g.112173860G>A , CM000667.1:g.112173860G>A | GRCh37 |
| NC_000005.8:g.112201759G>A | NCBI36 |
| NG_008481.4:g.150643G>A , LRG_130:g.150643G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.2234G>A | ENSP00000484935.2:n.2234G>A | |
| ENST00000504915.3:c.2623G>A | ENSP00000473355.2:p.Gly875Arg | |
| ENST00000505350.2:c.*2575G>A | ENSP00000481752.1:n.*2575G>A | |
| ENST00000507379.6:c.2515G>A | ENSP00000423224.2:p.Gly839Arg | |
| ENST00000509732.6:c.2569G>A | ENSP00000426541.2:p.Gly857Arg | |
| ENST00000512211.7:c.2569G>A | ENSP00000423828.3:p.Gly857Arg | |
| ENST00000257430.9:c.2569G>A MANE Select | ENSP00000257430.4:p.Gly857Arg | |
| ENST00000257430.8:c.2569G>A | ENSP00000257430.4:p.Gly857Arg | |
| ENST00000502371.2:c.922G>A | ||
| ENST00000507379.5:c.2515G>A | ENSP00000423224.1:p.Gly839Arg | |
| ENST00000508376.6:c.2569G>A | ENSP00000427089.2:p.Gly857Arg | |
| ENST00000508624.5:c.*1891G>A | ENSP00000424265.1:n.*1891G>A | |
| ENST00000512211.6:c.2569G>A | ENSP00000423828.2:p.Gly857Arg | |
| ENST00000520401.1:c.230+9191G>A | ||
| NM_000038.5:c.2569G>A | NP_000029.2:p.Gly857Arg | |
| NM_001127510.2:c.2569G>A | NP_001120982.1:p.Gly857Arg | |
| NM_001127511.2:c.2515G>A | NP_001120983.2:p.Gly839Arg | |
| NM_001354895.1:c.2569G>A | NP_001341824.1:p.Gly857Arg | |
| NM_001354896.1:c.2623G>A | NP_001341825.1:p.Gly875Arg | |
| NM_001354897.1:c.2599G>A | NP_001341826.1:p.Gly867Arg | |
| NM_001354898.1:c.2494G>A | NP_001341827.1:p.Gly832Arg | |
| NM_001354899.1:c.2485G>A | NP_001341828.1:p.Gly829Arg | |
| NM_001354900.1:c.2446G>A | NP_001341829.1:p.Gly816Arg | |
| NM_001354901.1:c.2392G>A | NP_001341830.1:p.Gly798Arg | |
| NM_001354902.1:c.2296G>A | NP_001341831.1:p.Gly766Arg | |
| NM_001354903.1:c.2266G>A | NP_001341832.1:p.Gly756Arg | |
| NM_001354904.1:c.2191G>A | NP_001341833.1:p.Gly731Arg | |
| NM_001354905.1:c.2089G>A | NP_001341834.1:p.Gly697Arg | |
| NM_001354906.1:c.1720G>A | NP_001341835.1:p.Gly574Arg | |
| NM_000038.6:c.2569G>A MANE Select | NP_000029.2:p.Gly857Arg | |
| NM_001127510.3:c.2569G>A | NP_001120982.1:p.Gly857Arg | |
| NM_001127511.3:c.2515G>A | NP_001120983.2:p.Gly839Arg | |
| NM_001354895.2:c.2569G>A | NP_001341824.1:p.Gly857Arg | |
| NM_001354896.2:c.2623G>A | NP_001341825.1:p.Gly875Arg | |
| NM_001354897.2:c.2599G>A | NP_001341826.1:p.Gly867Arg | |
| NM_001354898.2:c.2494G>A | NP_001341827.1:p.Gly832Arg | |
| NM_001354899.2:c.2485G>A | NP_001341828.1:p.Gly829Arg | |
| NM_001354900.2:c.2446G>A | NP_001341829.1:p.Gly816Arg | |
| NM_001354901.2:c.2392G>A | NP_001341830.1:p.Gly798Arg | |
| NM_001354902.2:c.2296G>A | NP_001341831.1:p.Gly766Arg | |
| NM_001354903.2:c.2266G>A | NP_001341832.1:p.Gly756Arg | |
| NM_001354904.2:c.2191G>A | NP_001341833.1:p.Gly731Arg | |
| NM_001354905.2:c.2089G>A | NP_001341834.1:p.Gly697Arg | |
| NM_001354906.2:c.1720G>A | NP_001341835.1:p.Gly574Arg |