Linked Data
ClinVar Variation Id:
1212419
dbSNP Id:
rs62636494
ExAC:
2:220286137 A / G
gnomAD v2:
2-220286137-A-G
gnomAD v3:
2-219421415-A-G
gnomAD v4:
2-219421415-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219421415A>G , CM000664.2:g.219421415A>G | GRCh38 |
| NC_000002.11:g.220286137A>G , CM000664.1:g.220286137A>G | GRCh37 |
| NC_000002.10:g.219994381A>G | NCBI36 |
| NG_008043.1:g.8039A>G , LRG_380:g.8039A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477226.6:n.573A>G | ||
| ENST00000683013.1:n.487A>G | ||
| ENST00000373960.4:c.1099A>G MANE Select | ENSP00000363071.3:p.Ile367Val | |
| ENST00000373960.3:c.1099A>G | ENSP00000363071.3:p.Ile367Val | |
| ENST00000477226.5:n.571A>G | ||
| ENST00000492726.1:n.494A>G | ||
| NM_001927.3:c.1099A>G , LRG_380t1:c.1099A>G | NP_001918.3:p.Ile367Val | |
| NM_001927.4:c.1099A>G MANE Select | NP_001918.3:p.Ile367Val | |
| NM_001382708.1:c.1096A>G | NP_001369637.1:p.Ile366Val | |
| NM_001382709.1:c.736-69A>G | NP_001369638.1:n.736-69A>G | |
| NM_001382710.1:c.1030A>G | NP_001369639.1:p.Ile344Val | |
| NM_001382711.1:c.1078A>G | NP_001369640.1:p.Ile360Val | |
| NM_001382712.1:c.1099A>G | NP_001369641.1:p.Ile367Val | |
| NM_001382713.1:c.829A>G | NP_001369642.1:p.Ile277Val |