Linked Data
ClinVar Variation Id:
541644
dbSNP Id:
rs115698972
ExAC:
8:42176927 G / A
gnomAD v2:
8-42176927-G-A
gnomAD v3:
8-42319409-G-A
gnomAD v4:
8-42319409-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.42319409G>A , CM000670.2:g.42319409G>A | GRCh38 |
| NC_000008.10:g.42176927G>A , CM000670.1:g.42176927G>A | GRCh37 |
| NC_000008.9:g.42296084G>A | NCBI36 |
| NG_041793.1:g.53108G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000416505.7:c.1167G>A | ||
| ENST00000520810.6:c.1504G>A MANE Select | ENSP00000430684.1:p.Glu502Lys | |
| ENST00000520835.7:c.1312G>A | ENSP00000430868.2:p.Glu438Lys | |
| ENST00000523599.2:n.254G>A | ||
| ENST00000629753.2:c.*1318G>A | ENSP00000486961.2:n.*1318G>A | |
| ENST00000648136.2:n.1215G>A | ||
| ENST00000649612.3:c.1268G>A | ||
| ENST00000649751.1:n.160G>A | ||
| ENST00000676525.1:c.1106G>A | ENSP00000503997.1:n.1106G>A | |
| ENST00000342222.6:c.*1065G>A | ENSP00000339151.2:n.*1065G>A | |
| ENST00000416505.5:c.1327G>A | ENSP00000404920.2:p.Glu443Lys | |
| ENST00000517502.5:n.379G>A | ||
| ENST00000517890.5:c.*1262G>A | ENSP00000428799.1:n.*1262G>A | |
| ENST00000517917.5:n.1390G>A | ||
| ENST00000518679.5:c.*785G>A | ENSP00000430557.1:n.*785G>A | |
| ENST00000520201.5:n.1508G>A | ||
| ENST00000520655.5:c.1504G>A | ENSP00000428922.1:p.Glu502Lys | |
| ENST00000520810.5:c.1504G>A | ENSP00000430684.1:p.Glu502Lys | |
| ENST00000520835.5:c.1498G>A | ENSP00000430868.1:p.Glu500Lys | |
| ENST00000521661.5:c.1504G>A | ENSP00000428186.1:p.Glu502Lys | |
| ENST00000522147.4:c.106-11798G>A | ENSP00000428892.1:n.106-11798G>A | |
| ENST00000522785.1:n.397G>A | ||
| ENST00000523105.5:c.*1262G>A | ENSP00000429239.1:n.*1262G>A | |
| ENST00000523517.5:c.*323G>A | ENSP00000430114.1:n.*323G>A | |
| ENST00000629753.1:c.1504G>A | ENSP00000486961.1:p.Glu502Lys | |
| NM_001190720.2:c.1498G>A | NP_001177649.1:p.Glu500Lys | |
| NM_001242778.1:c.1327G>A | NP_001229707.1:p.Glu443Lys | |
| NM_001556.2:c.1504G>A | NP_001547.1:p.Glu502Lys | |
| NR_033818.1:n.1746G>A | ||
| NR_033819.1:n.1690G>A | ||
| NR_040009.1:n.1637G>A | ||
| XM_005273490.1:c.1504G>A | XP_005273547.1:p.Glu502Lys | |
| XM_005273491.3:c.1327G>A | XP_005273548.1:p.Glu443Lys | |
| XM_005273492.2:c.1504G>A | XP_005273549.1:p.Glu502Lys | |
| XM_005273493.2:c.1189G>A | XP_005273550.1:p.Glu397Lys | |
| XM_005273494.1:c.1504G>A | XP_005273551.1:p.Glu502Lys | |
| XM_005273495.1:c.874G>A | XP_005273552.1:p.Glu292Lys | |
| XM_005273496.2:c.874G>A | XP_005273553.1:p.Glu292Lys | |
| XM_005273498.2:c.874G>A | XP_005273555.1:p.Glu292Lys | |
| XM_011544517.1:c.1504G>A | XP_011542819.1:p.Glu502Lys | |
| XM_011544518.1:c.1354G>A | XP_011542820.1:p.Glu452Lys | |
| XM_011544519.1:c.1327G>A | XP_011542821.1:p.Glu443Lys | |
| XM_011544520.1:c.1249G>A | XP_011542822.1:p.Glu417Lys | |
| XM_011544521.1:c.874G>A | XP_011542823.1:p.Glu292Lys | |
| XM_011544522.1:c.667G>A | XP_011542824.1:p.Glu223Lys | |
| XR_949402.1:n.1590G>A | ||
| NM_001556.3:c.1504G>A MANE Select | NP_001547.1:p.Glu502Lys | |
| XM_005273490.3:c.1504G>A | XP_005273547.1:p.Glu502Lys | |
| XM_005273491.5:c.1327G>A | XP_005273548.1:p.Glu443Lys | |
| XM_005273492.4:c.1504G>A | XP_005273549.1:p.Glu502Lys | |
| XM_005273493.4:c.1189G>A | XP_005273550.1:p.Glu397Lys | |
| XM_005273494.3:c.1504G>A | XP_005273551.1:p.Glu502Lys | |
| XM_005273495.2:c.874G>A | XP_005273552.1:p.Glu292Lys | |
| XM_005273496.4:c.874G>A | XP_005273553.1:p.Glu292Lys | |
| XM_005273498.4:c.874G>A | XP_005273555.1:p.Glu292Lys | |
| XM_011544517.2:c.1504G>A | XP_011542819.1:p.Glu502Lys | |
| XM_011544518.2:c.1354G>A | XP_011542820.1:p.Glu452Lys | |
| XM_011544519.2:c.1327G>A | XP_011542821.1:p.Glu443Lys | |
| XM_011544520.2:c.1249G>A | XP_011542822.1:p.Glu417Lys | |
| XM_011544521.2:c.874G>A | XP_011542823.1:p.Glu292Lys | |
| XM_011544522.2:c.667G>A | XP_011542824.1:p.Glu223Lys | |
| XM_017013396.1:c.667G>A | XP_016868885.1:p.Glu223Lys | |
| XR_001745530.2:n.1688G>A | ||
| XR_949402.3:n.2170G>A | ||
| NM_001242778.2:c.1327G>A | NP_001229707.1:p.Glu443Lys | |
| NR_033818.2:n.1746G>A | ||
| NR_033819.2:n.1690G>A | ||
| NR_040009.2:n.1637G>A | ||
| NM_001190720.3:c.1312G>A | NP_001177649.2:p.Glu438Lys |