Linked Data
ClinVar Variation Id:
236620
dbSNP Id:
rs766739164
ExAC:
5:112176797 G / A
gnomAD v2:
5-112176797-G-A
gnomAD v3:
5-112841100-G-A
gnomAD v4:
5-112841100-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112841100G>A , CM000667.2:g.112841100G>A | GRCh38 |
| NC_000005.9:g.112176797G>A , CM000667.1:g.112176797G>A | GRCh37 |
| NC_000005.8:g.112204696G>A | NCBI36 |
| NG_008481.4:g.153580G>A , LRG_130:g.153580G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.5560G>A | ENSP00000473355.2:p.Gly1854Arg | |
| ENST00000505350.2:c.*5512G>A | ENSP00000481752.1:n.*5512G>A | |
| ENST00000507379.6:c.5452G>A | ENSP00000423224.2:p.Gly1818Arg | |
| ENST00000509732.6:c.5506G>A | ENSP00000426541.2:p.Gly1836Arg | |
| ENST00000512211.7:c.5506G>A | ENSP00000423828.3:p.Gly1836Arg | |
| ENST00000257430.9:c.5506G>A MANE Select | ENSP00000257430.4:p.Gly1836Arg | |
| ENST00000257430.8:c.5506G>A | ENSP00000257430.4:p.Gly1836Arg | |
| ENST00000508376.6:c.5506G>A | ENSP00000427089.2:p.Gly1836Arg | |
| ENST00000508624.5:c.*4828G>A | ENSP00000424265.1:n.*4828G>A | |
| ENST00000520401.1:c.230+12128G>A | ||
| NM_000038.5:c.5506G>A | NP_000029.2:p.Gly1836Arg | |
| NM_001127510.2:c.5506G>A | NP_001120982.1:p.Gly1836Arg | |
| NM_001127511.2:c.5452G>A | NP_001120983.2:p.Gly1818Arg | |
| NM_001354895.1:c.5506G>A | NP_001341824.1:p.Gly1836Arg | |
| NM_001354896.1:c.5560G>A | NP_001341825.1:p.Gly1854Arg | |
| NM_001354897.1:c.5536G>A | NP_001341826.1:p.Gly1846Arg | |
| NM_001354898.1:c.5431G>A | NP_001341827.1:p.Gly1811Arg | |
| NM_001354899.1:c.5422G>A | NP_001341828.1:p.Gly1808Arg | |
| NM_001354900.1:c.5383G>A | NP_001341829.1:p.Gly1795Arg | |
| NM_001354901.1:c.5329G>A | NP_001341830.1:p.Gly1777Arg | |
| NM_001354902.1:c.5233G>A | NP_001341831.1:p.Gly1745Arg | |
| NM_001354903.1:c.5203G>A | NP_001341832.1:p.Gly1735Arg | |
| NM_001354904.1:c.5128G>A | NP_001341833.1:p.Gly1710Arg | |
| NM_001354905.1:c.5026G>A | NP_001341834.1:p.Gly1676Arg | |
| NM_001354906.1:c.4657G>A | NP_001341835.1:p.Gly1553Arg | |
| NM_000038.6:c.5506G>A MANE Select | NP_000029.2:p.Gly1836Arg | |
| NM_001127510.3:c.5506G>A | NP_001120982.1:p.Gly1836Arg | |
| NM_001127511.3:c.5452G>A | NP_001120983.2:p.Gly1818Arg | |
| NM_001354895.2:c.5506G>A | NP_001341824.1:p.Gly1836Arg | |
| NM_001354896.2:c.5560G>A | NP_001341825.1:p.Gly1854Arg | |
| NM_001354897.2:c.5536G>A | NP_001341826.1:p.Gly1846Arg | |
| NM_001354898.2:c.5431G>A | NP_001341827.1:p.Gly1811Arg | |
| NM_001354899.2:c.5422G>A | NP_001341828.1:p.Gly1808Arg | |
| NM_001354900.2:c.5383G>A | NP_001341829.1:p.Gly1795Arg | |
| NM_001354901.2:c.5329G>A | NP_001341830.1:p.Gly1777Arg | |
| NM_001354902.2:c.5233G>A | NP_001341831.1:p.Gly1745Arg | |
| NM_001354903.2:c.5203G>A | NP_001341832.1:p.Gly1735Arg | |
| NM_001354904.2:c.5128G>A | NP_001341833.1:p.Gly1710Arg | |
| NM_001354905.2:c.5026G>A | NP_001341834.1:p.Gly1676Arg | |
| NM_001354906.2:c.4657G>A | NP_001341835.1:p.Gly1553Arg |