Linked Data
ClinVar Variation Id:
537499
dbSNP Id:
rs1166934042
gnomAD v2:
5-112177145-C-G
gnomAD v3:
5-112841448-C-G
gnomAD v4:
5-112841448-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112841448C>G , CM000667.2:g.112841448C>G | GRCh38 |
| NC_000005.9:g.112177145C>G , CM000667.1:g.112177145C>G | GRCh37 |
| NC_000005.8:g.112205044C>G | NCBI36 |
| NG_008481.4:g.153928C>G , LRG_130:g.153928C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.5908C>G | ENSP00000473355.2:p.Gln1970Glu | |
| ENST00000505350.2:c.*5860C>G | ENSP00000481752.1:n.*5860C>G | |
| ENST00000507379.6:c.5800C>G | ENSP00000423224.2:p.Gln1934Glu | |
| ENST00000509732.6:c.5854C>G | ENSP00000426541.2:p.Gln1952Glu | |
| ENST00000512211.7:c.5854C>G | ENSP00000423828.3:p.Gln1952Glu | |
| ENST00000257430.9:c.5854C>G MANE Select | ENSP00000257430.4:p.Gln1952Glu | |
| ENST00000257430.8:c.5854C>G | ENSP00000257430.4:p.Gln1952Glu | |
| ENST00000508376.6:c.5854C>G | ENSP00000427089.2:p.Gln1952Glu | |
| ENST00000508624.5:c.*5176C>G | ENSP00000424265.1:n.*5176C>G | |
| ENST00000520401.1:c.230+12476C>G | ||
| NM_000038.5:c.5854C>G | NP_000029.2:p.Gln1952Glu | |
| NM_001127510.2:c.5854C>G | NP_001120982.1:p.Gln1952Glu | |
| NM_001127511.2:c.5800C>G | NP_001120983.2:p.Gln1934Glu | |
| NM_001354895.1:c.5854C>G | NP_001341824.1:p.Gln1952Glu | |
| NM_001354896.1:c.5908C>G | NP_001341825.1:p.Gln1970Glu | |
| NM_001354897.1:c.5884C>G | NP_001341826.1:p.Gln1962Glu | |
| NM_001354898.1:c.5779C>G | NP_001341827.1:p.Gln1927Glu | |
| NM_001354899.1:c.5770C>G | NP_001341828.1:p.Gln1924Glu | |
| NM_001354900.1:c.5731C>G | NP_001341829.1:p.Gln1911Glu | |
| NM_001354901.1:c.5677C>G | NP_001341830.1:p.Gln1893Glu | |
| NM_001354902.1:c.5581C>G | NP_001341831.1:p.Gln1861Glu | |
| NM_001354903.1:c.5551C>G | NP_001341832.1:p.Gln1851Glu | |
| NM_001354904.1:c.5476C>G | NP_001341833.1:p.Gln1826Glu | |
| NM_001354905.1:c.5374C>G | NP_001341834.1:p.Gln1792Glu | |
| NM_001354906.1:c.5005C>G | NP_001341835.1:p.Gln1669Glu | |
| NM_000038.6:c.5854C>G MANE Select | NP_000029.2:p.Gln1952Glu | |
| NM_001127510.3:c.5854C>G | NP_001120982.1:p.Gln1952Glu | |
| NM_001127511.3:c.5800C>G | NP_001120983.2:p.Gln1934Glu | |
| NM_001354895.2:c.5854C>G | NP_001341824.1:p.Gln1952Glu | |
| NM_001354896.2:c.5908C>G | NP_001341825.1:p.Gln1970Glu | |
| NM_001354897.2:c.5884C>G | NP_001341826.1:p.Gln1962Glu | |
| NM_001354898.2:c.5779C>G | NP_001341827.1:p.Gln1927Glu | |
| NM_001354899.2:c.5770C>G | NP_001341828.1:p.Gln1924Glu | |
| NM_001354900.2:c.5731C>G | NP_001341829.1:p.Gln1911Glu | |
| NM_001354901.2:c.5677C>G | NP_001341830.1:p.Gln1893Glu | |
| NM_001354902.2:c.5581C>G | NP_001341831.1:p.Gln1861Glu | |
| NM_001354903.2:c.5551C>G | NP_001341832.1:p.Gln1851Glu | |
| NM_001354904.2:c.5476C>G | NP_001341833.1:p.Gln1826Glu | |
| NM_001354905.2:c.5374C>G | NP_001341834.1:p.Gln1792Glu | |
| NM_001354906.2:c.5005C>G | NP_001341835.1:p.Gln1669Glu |