Linked Data
ClinVar Variation Id:
167664
dbSNP Id:
rs118064970
ExAC:
1:243507569 A / G
gnomAD v2:
1-243507569-A-G
gnomAD v3:
1-243344267-A-G
gnomAD v4:
1-243344267-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.243344267A>G , CM000663.2:g.243344267A>G | GRCh38 |
| NC_000001.10:g.243507569A>G , CM000663.1:g.243507569A>G | GRCh37 |
| NC_000001.9:g.241574192A>G | NCBI36 |
| NG_027811.1:g.93263A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366541.8:c.1409A>G MANE Select | ENSP00000355499.3:p.Glu470Gly | |
| ENST00000366541.7:c.1409A>G | ENSP00000355499.3:p.Glu470Gly | |
| ENST00000435549.1:c.749A>G | ENSP00000410200.1:p.Glu250Gly | |
| ENST00000493334.1:n.376A>G | ||
| NM_006642.3:c.1409A>G | NP_006633.1:p.Glu470Gly | |
| XM_005273013.3:c.1280A>G | XP_005273070.1:p.Glu427Gly | |
| XM_005273018.1:c.986A>G | XP_005273075.1:p.Glu329Gly | |
| XM_005273021.3:c.506A>G | XP_005273078.1:p.Glu169Gly | |
| XM_005273022.2:c.488A>G | XP_005273079.1:p.Glu163Gly | |
| XM_006711727.2:c.1439A>G | XP_006711790.1:p.Glu480Gly | |
| XM_006711728.2:c.1310A>G | XP_006711791.1:p.Glu437Gly | |
| XM_006711729.2:c.1250A>G | XP_006711792.1:p.Glu417Gly | |
| XM_011544021.1:c.1535A>G | XP_011542323.1:p.Glu512Gly | |
| XM_011544022.1:c.1505A>G | XP_011542324.1:p.Glu502Gly | |
| XM_011544023.1:c.1535A>G | XP_011542325.1:p.Glu512Gly | |
| XM_011544024.1:c.1535A>G | XP_011542326.1:p.Glu512Gly | |
| XM_011544025.1:c.1346A>G | XP_011542327.1:p.Glu449Gly | |
| XM_011544026.1:c.1535A>G | XP_011542328.1:p.Glu512Gly | |
| XM_011544027.1:c.1121A>G | XP_011542329.1:p.Glu374Gly | |
| XM_011544028.1:c.1310A>G | XP_011542330.1:p.Glu437Gly | |
| XM_011544030.1:c.464A>G | XP_011542332.1:p.Glu155Gly | |
| XR_949128.1:n.1559A>G | ||
| NM_001350246.1:c.506A>G | NP_001337175.1:p.Glu169Gly | |
| NM_001350247.1:c.506A>G | NP_001337176.1:p.Glu169Gly | |
| NM_001350248.1:c.1505A>G | NP_001337177.1:p.Glu502Gly | |
| NM_001350249.1:c.1115A>G | NP_001337178.1:p.Glu372Gly | |
| NM_001350251.1:c.506A>G | NP_001337180.1:p.Glu169Gly | |
| NM_006642.4:c.1409A>G | NP_006633.1:p.Glu470Gly | |
| XM_005273013.5:c.1280A>G | XP_005273070.1:p.Glu427Gly | |
| XM_005273018.2:c.986A>G | XP_005273075.1:p.Glu329Gly | |
| XM_005273022.4:c.488A>G | XP_005273079.1:p.Glu163Gly | |
| XM_011544026.3:c.1535A>G | XP_011542328.1:p.Glu512Gly | |
| XM_011544028.3:c.1310A>G | XP_011542330.1:p.Glu437Gly | |
| XM_011544030.3:c.464A>G | XP_011542332.1:p.Glu155Gly | |
| XM_017000104.2:c.1280A>G | XP_016855593.1:p.Glu427Gly | |
| XM_017000105.2:c.1409A>G | XP_016855594.1:p.Glu470Gly | |
| XM_024452537.1:c.1211A>G | XP_024308305.1:p.Glu404Gly | |
| XM_024452539.1:c.1211A>G | XP_024308307.1:p.Glu404Gly | |
| XM_024452540.1:c.1211A>G | XP_024308308.1:p.Glu404Gly | |
| XM_024452547.1:c.1115A>G | XP_024308315.1:p.Glu372Gly | |
| XM_024452548.1:c.1211A>G | XP_024308316.1:p.Glu404Gly | |
| XM_024452549.1:c.1115A>G | XP_024308317.1:p.Glu372Gly | |
| XR_002958955.1:n.1451A>G | ||
| XR_002958956.1:n.1451A>G | ||
| XR_002958965.1:n.1451A>G | ||
| NM_006642.5:c.1409A>G MANE Select | NP_006633.1:p.Glu470Gly | |
| NM_001350246.2:c.506A>G | NP_001337175.1:p.Glu169Gly | |
| NM_001350247.2:c.506A>G | NP_001337176.1:p.Glu169Gly | |
| NM_001350248.2:c.1505A>G | NP_001337177.1:p.Glu502Gly | |
| NM_001350249.2:c.1115A>G | NP_001337178.1:p.Glu372Gly | |
| NM_001350251.2:c.506A>G | NP_001337180.1:p.Glu169Gly |