Linked Data
ClinVar Variation Id:
184169
ClinVar RCV Id:
RCV000163348
RCV000231340
RCV000758732
RCV000764565
RCV002267901
RCV003153439
RCV003995246
dbSNP Id:
rs769273526
ExAC:
5:112176396 G / A
gnomAD v2:
5-112176396-G-A
gnomAD v3:
5-112840699-G-A
gnomAD v4:
5-112840699-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112840699G>A , CM000667.2:g.112840699G>A | GRCh38 |
| NC_000005.9:g.112176396G>A , CM000667.1:g.112176396G>A | GRCh37 |
| NC_000005.8:g.112204295G>A | NCBI36 |
| NG_008481.4:g.153179G>A , LRG_130:g.153179G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.5159G>A | ENSP00000473355.2:p.Gly1720Glu | |
| ENST00000505350.2:c.*5111G>A | ENSP00000481752.1:n.*5111G>A | |
| ENST00000507379.6:c.5051G>A | ENSP00000423224.2:p.Gly1684Glu | |
| ENST00000509732.6:c.5105G>A | ENSP00000426541.2:p.Gly1702Glu | |
| ENST00000512211.7:c.5105G>A | ENSP00000423828.3:p.Gly1702Glu | |
| ENST00000257430.9:c.5105G>A MANE Select | ENSP00000257430.4:p.Gly1702Glu | |
| ENST00000257430.8:c.5105G>A | ENSP00000257430.4:p.Gly1702Glu | |
| ENST00000508376.6:c.5105G>A | ENSP00000427089.2:p.Gly1702Glu | |
| ENST00000508624.5:c.*4427G>A | ENSP00000424265.1:n.*4427G>A | |
| ENST00000520401.1:c.230+11727G>A | ||
| NM_000038.5:c.5105G>A | NP_000029.2:p.Gly1702Glu | |
| NM_001127510.2:c.5105G>A | NP_001120982.1:p.Gly1702Glu | |
| NM_001127511.2:c.5051G>A | NP_001120983.2:p.Gly1684Glu | |
| NM_001354895.1:c.5105G>A | NP_001341824.1:p.Gly1702Glu | |
| NM_001354896.1:c.5159G>A | NP_001341825.1:p.Gly1720Glu | |
| NM_001354897.1:c.5135G>A | NP_001341826.1:p.Gly1712Glu | |
| NM_001354898.1:c.5030G>A | NP_001341827.1:p.Gly1677Glu | |
| NM_001354899.1:c.5021G>A | NP_001341828.1:p.Gly1674Glu | |
| NM_001354900.1:c.4982G>A | NP_001341829.1:p.Gly1661Glu | |
| NM_001354901.1:c.4928G>A | NP_001341830.1:p.Gly1643Glu | |
| NM_001354902.1:c.4832G>A | NP_001341831.1:p.Gly1611Glu | |
| NM_001354903.1:c.4802G>A | NP_001341832.1:p.Gly1601Glu | |
| NM_001354904.1:c.4727G>A | NP_001341833.1:p.Gly1576Glu | |
| NM_001354905.1:c.4625G>A | NP_001341834.1:p.Gly1542Glu | |
| NM_001354906.1:c.4256G>A | NP_001341835.1:p.Gly1419Glu | |
| NM_000038.6:c.5105G>A MANE Select | NP_000029.2:p.Gly1702Glu | |
| NM_001127510.3:c.5105G>A | NP_001120982.1:p.Gly1702Glu | |
| NM_001127511.3:c.5051G>A | NP_001120983.2:p.Gly1684Glu | |
| NM_001354895.2:c.5105G>A | NP_001341824.1:p.Gly1702Glu | |
| NM_001354896.2:c.5159G>A | NP_001341825.1:p.Gly1720Glu | |
| NM_001354897.2:c.5135G>A | NP_001341826.1:p.Gly1712Glu | |
| NM_001354898.2:c.5030G>A | NP_001341827.1:p.Gly1677Glu | |
| NM_001354899.2:c.5021G>A | NP_001341828.1:p.Gly1674Glu | |
| NM_001354900.2:c.4982G>A | NP_001341829.1:p.Gly1661Glu | |
| NM_001354901.2:c.4928G>A | NP_001341830.1:p.Gly1643Glu | |
| NM_001354902.2:c.4832G>A | NP_001341831.1:p.Gly1611Glu | |
| NM_001354903.2:c.4802G>A | NP_001341832.1:p.Gly1601Glu | |
| NM_001354904.2:c.4727G>A | NP_001341833.1:p.Gly1576Glu | |
| NM_001354905.2:c.4625G>A | NP_001341834.1:p.Gly1542Glu | |
| NM_001354906.2:c.4256G>A | NP_001341835.1:p.Gly1419Glu |