Linked Data
ClinVar Variation Id:
260015
dbSNP Id:
rs6672843
ExAC:
1:243480091 G / A
gnomAD v2:
1-243480091-G-A
gnomAD v3:
1-243316789-G-A
gnomAD v4:
1-243316789-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.243316789G>A , CM000663.2:g.243316789G>A | GRCh38 |
| NC_000001.10:g.243480091G>A , CM000663.1:g.243480091G>A | GRCh37 |
| NC_000001.9:g.241546714G>A | NCBI36 |
| NG_027811.1:g.65785G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366541.8:c.964G>A MANE Select | ENSP00000355499.3:p.Val322Ile | |
| ENST00000366541.7:c.964G>A | ENSP00000355499.3:p.Val322Ile | |
| ENST00000435549.1:c.304G>A | ENSP00000410200.1:p.Val102Ile | |
| ENST00000463012.1:n.324G>A | ||
| NM_006642.3:c.964G>A | NP_006633.1:p.Val322Ile | |
| XM_005273013.3:c.835G>A | XP_005273070.1:p.Val279Ile | |
| XM_005273018.1:c.541G>A | XP_005273075.1:p.Val181Ile | |
| XM_005273021.3:c.61G>A | XP_005273078.1:p.Val21Ile | |
| XM_005273022.2:c.43G>A | XP_005273079.1:p.Val15Ile | |
| XM_005273023.3:c.964G>A | XP_005273080.1:p.Val322Ile | |
| XM_006711727.2:c.994G>A | XP_006711790.1:p.Val332Ile | |
| XM_006711728.2:c.865G>A | XP_006711791.1:p.Val289Ile | |
| XM_006711729.2:c.805G>A | XP_006711792.1:p.Val269Ile | |
| XM_011544021.1:c.1090G>A | XP_011542323.1:p.Val364Ile | |
| XM_011544022.1:c.1060G>A | XP_011542324.1:p.Val354Ile | |
| XM_011544023.1:c.1090G>A | XP_011542325.1:p.Val364Ile | |
| XM_011544024.1:c.1090G>A | XP_011542326.1:p.Val364Ile | |
| XM_011544025.1:c.901G>A | XP_011542327.1:p.Val301Ile | |
| XM_011544026.1:c.1090G>A | XP_011542328.1:p.Val364Ile | |
| XM_011544027.1:c.676G>A | XP_011542329.1:p.Val226Ile | |
| XM_011544028.1:c.865G>A | XP_011542330.1:p.Val289Ile | |
| XM_011544029.1:c.1090G>A | XP_011542331.1:p.Val364Ile | |
| XM_011544030.1:c.19G>A | XP_011542332.1:p.Val7Ile | |
| XR_949128.1:n.1114G>A | ||
| NM_001350246.1:c.61G>A | NP_001337175.1:p.Val21Ile | |
| NM_001350247.1:c.61G>A | NP_001337176.1:p.Val21Ile | |
| NM_001350248.1:c.1060G>A | NP_001337177.1:p.Val354Ile | |
| NM_001350249.1:c.670G>A | NP_001337178.1:p.Val224Ile | |
| NM_001350251.1:c.61G>A | NP_001337180.1:p.Val21Ile | |
| NM_006642.4:c.964G>A | NP_006633.1:p.Val322Ile | |
| XM_005273013.5:c.835G>A | XP_005273070.1:p.Val279Ile | |
| XM_005273018.2:c.541G>A | XP_005273075.1:p.Val181Ile | |
| XM_005273022.4:c.43G>A | XP_005273079.1:p.Val15Ile | |
| XM_005273023.5:c.964G>A | XP_005273080.1:p.Val322Ile | |
| XM_011544026.3:c.1090G>A | XP_011542328.1:p.Val364Ile | |
| XM_011544028.3:c.865G>A | XP_011542330.1:p.Val289Ile | |
| XM_011544030.3:c.19G>A | XP_011542332.1:p.Val7Ile | |
| XM_017000104.2:c.835G>A | XP_016855593.1:p.Val279Ile | |
| XM_017000105.2:c.964G>A | XP_016855594.1:p.Val322Ile | |
| XM_024452537.1:c.766G>A | XP_024308305.1:p.Val256Ile | |
| XM_024452539.1:c.766G>A | XP_024308307.1:p.Val256Ile | |
| XM_024452540.1:c.766G>A | XP_024308308.1:p.Val256Ile | |
| XM_024452547.1:c.670G>A | XP_024308315.1:p.Val224Ile | |
| XM_024452548.1:c.766G>A | XP_024308316.1:p.Val256Ile | |
| XM_024452549.1:c.670G>A | XP_024308317.1:p.Val224Ile | |
| XR_002958955.1:n.1006G>A | ||
| XR_002958956.1:n.1006G>A | ||
| XR_002958965.1:n.1006G>A | ||
| NM_006642.5:c.964G>A MANE Select | NP_006633.1:p.Val322Ile | |
| NM_001350246.2:c.61G>A | NP_001337175.1:p.Val21Ile | |
| NM_001350247.2:c.61G>A | NP_001337176.1:p.Val21Ile | |
| NM_001350248.2:c.1060G>A | NP_001337177.1:p.Val354Ile | |
| NM_001350249.2:c.670G>A | NP_001337178.1:p.Val224Ile | |
| NM_001350251.2:c.61G>A | NP_001337180.1:p.Val21Ile |