Linked Data
ClinVar Variation Id:
201718
dbSNP Id:
rs794728992
gnomAD v3:
2-219418757-C-G
gnomAD v4:
2-219418757-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219418757C>G , CM000664.2:g.219418757C>G | GRCh38 |
| NC_000002.11:g.220283479C>G , CM000664.1:g.220283479C>G | GRCh37 |
| NC_000002.10:g.219991723C>G | NCBI36 |
| NG_008043.1:g.5381C>G , LRG_380:g.5381C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373960.4:c.295C>G MANE Select | ENSP00000363071.3:p.Gln99Glu | |
| ENST00000373960.3:c.295C>G | ENSP00000363071.3:p.Gln99Glu | |
| NM_001927.3:c.295C>G , LRG_380t1:c.295C>G | NP_001918.3:p.Gln99Glu | |
| NM_001927.4:c.295C>G MANE Select | NP_001918.3:p.Gln99Glu | |
| NM_001382708.1:c.295C>G | NP_001369637.1:p.Gln99Glu | |
| NM_001382709.1:c.295C>G | NP_001369638.1:p.Gln99Glu | |
| NM_001382710.1:c.295C>G | NP_001369639.1:p.Gln99Glu | |
| NM_001382711.1:c.295C>G | NP_001369640.1:p.Gln99Glu | |
| NM_001382712.1:c.295C>G | NP_001369641.1:p.Gln99Glu | |
| NM_001382713.1:c.295C>G | NP_001369642.1:p.Gln99Glu |