Linked Data
ClinVar Variation Id:
2383023
ClinVar RCV Id:
RCV002689163
dbSNP Id:
rs377189934
ExAC:
2:116510826 A / G
gnomAD v2:
2-116510826-A-G
gnomAD v3:
2-115753250-A-G
gnomAD v4:
2-115753250-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.115753250A>G , CM000664.2:g.115753250A>G | GRCh38 |
| NC_000002.11:g.116510826A>G , CM000664.1:g.116510826A>G | GRCh37 |
| NC_000002.10:g.116227296A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000410059.6:c.1027A>G MANE Select | ENSP00000386565.1:p.Ile343Val | |
| ENST00000310323.12:c.1006A>G | ENSP00000309066.8:p.Ile336Val | |
| ENST00000393147.6:c.1039A>G | ENSP00000376855.2:p.Ile347Val | |
| ENST00000409163.5:c.877A>G | ENSP00000387038.1:p.Ile293Val | |
| ENST00000410059.5:c.1027A>G | ENSP00000386565.1:p.Ile343Val | |
| NM_001004360.3:c.1006A>G | NP_001004360.2:p.Ile336Val | |
| NM_001178034.1:c.1039A>G | NP_001171505.1:p.Ile347Val | |
| NM_001178036.1:c.877A>G | NP_001171507.1:p.Ile293Val | |
| NM_001178037.1:c.1015A>G | NP_001171508.1:p.Ile339Val | |
| NM_020868.3:c.1027A>G | NP_065919.2:p.Ile343Val | |
| XM_011511526.1:c.1006A>G | XP_011509828.1:p.Ile336Val | |
| XM_011511527.1:c.877A>G | XP_011509829.1:p.Ile293Val | |
| XM_011511528.1:c.775A>G | XP_011509830.1:p.Ile259Val | |
| XR_923234.1:n.67+1485T>C | ||
| NM_001321905.1:c.1078A>G | NP_001308834.1:p.Ile360Val | |
| NM_001321906.1:c.1006A>G | NP_001308835.1:p.Ile336Val | |
| NM_001321907.1:c.1027A>G | NP_001308836.1:p.Ile343Val | |
| NM_001321908.1:c.937A>G | NP_001308837.1:p.Ile313Val | |
| NM_001321909.1:c.910A>G | NP_001308838.1:p.Ile304Val | |
| NM_001321910.1:c.877A>G | NP_001308839.1:p.Ile293Val | |
| NM_001321911.1:c.877A>G | NP_001308840.1:p.Ile293Val | |
| NM_001321912.1:c.877A>G | NP_001308841.1:p.Ile293Val | |
| NM_001321913.1:c.265A>G | NP_001308842.1:p.Ile89Val | |
| NM_001321914.1:c.265A>G | NP_001308843.1:p.Ile89Val | |
| NM_020868.4:c.1027A>G | NP_065919.2:p.Ile343Val | |
| XM_017004566.1:c.904A>G | XP_016860055.1:p.Ile302Val | |
| XM_024453023.1:c.1006A>G | XP_024308791.1:p.Ile336Val | |
| XR_923234.2:n.67+1485T>C | ||
| NM_001004360.4:c.1006A>G | NP_001004360.3:p.Ile336Val | |
| NM_001178036.2:c.877A>G | NP_001171507.2:p.Ile293Val | |
| NM_001178037.2:c.1015A>G | NP_001171508.2:p.Ile339Val | |
| NM_001321905.2:c.1078A>G | NP_001308834.2:p.Ile360Val | |
| NM_001321907.2:c.1027A>G | NP_001308836.2:p.Ile343Val | |
| NM_001321908.2:c.937A>G | NP_001308837.2:p.Ile313Val | |
| NM_001321909.2:c.910A>G | NP_001308838.2:p.Ile304Val | |
| NM_001321910.2:c.877A>G | NP_001308839.2:p.Ile293Val | |
| NM_001321911.2:c.877A>G | NP_001308840.2:p.Ile293Val | |
| NM_001321912.2:c.877A>G | NP_001308841.2:p.Ile293Val | |
| NM_001321913.2:c.265A>G | NP_001308842.2:p.Ile89Val | |
| NM_020868.6:c.1027A>G MANE Select | NP_065919.3:p.Ile343Val | |
| NM_001004360.5:c.1006A>G | NP_001004360.3:p.Ile336Val | |
| NM_001178036.3:c.877A>G | NP_001171507.2:p.Ile293Val | |
| NM_001178037.3:c.1015A>G | NP_001171508.2:p.Ile339Val | |
| NM_001321905.3:c.1078A>G | NP_001308834.2:p.Ile360Val | |
| NM_001321906.2:c.1006A>G | NP_001308835.2:p.Ile336Val | |
| NM_001321907.3:c.1027A>G | NP_001308836.2:p.Ile343Val | |
| NM_001321908.3:c.937A>G | NP_001308837.2:p.Ile313Val | |
| NM_001321909.3:c.910A>G | NP_001308838.2:p.Ile304Val | |
| NM_001321910.3:c.877A>G | NP_001308839.2:p.Ile293Val | |
| NM_001321911.3:c.877A>G | NP_001308840.2:p.Ile293Val | |
| NM_001321912.3:c.877A>G | NP_001308841.2:p.Ile293Val | |
| NM_001321913.3:c.265A>G | NP_001308842.2:p.Ile89Val | |
| NM_001321914.2:c.265A>G | NP_001308843.2:p.Ile89Val | |
| NM_001399849.1:c.877A>G | NP_001386778.1:p.Ile293Val | |
| NM_001399850.1:c.265A>G | NP_001386779.1:p.Ile89Val | |
| NM_001399851.1:c.775A>G | NP_001386780.1:p.Ile259Val |