Linked Data
ClinVar Variation Id:
201704
ClinVar RCV Id:
RCV001337313
dbSNP Id:
rs794728986
gnomAD v2:
2-220285364-T-G
gnomAD v3:
2-219420642-T-G
gnomAD v4:
2-219420642-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219420642T>G , CM000664.2:g.219420642T>G | GRCh38 |
| NC_000002.11:g.220285364T>G , CM000664.1:g.220285364T>G | GRCh37 |
| NC_000002.10:g.219993608T>G | NCBI36 |
| NG_008043.1:g.7266T>G , LRG_380:g.7266T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000477226.6:n.357T>G | ||
| ENST00000683013.1:n.271T>G | ||
| ENST00000373960.4:c.883T>G MANE Select | ENSP00000363071.3:p.Trp295Gly | |
| ENST00000373960.3:c.883T>G | ENSP00000363071.3:p.Trp295Gly | |
| ENST00000477226.5:n.355T>G | ||
| ENST00000492726.1:n.278T>G | ||
| NM_001927.3:c.883T>G , LRG_380t1:c.883T>G | NP_001918.3:p.Trp295Gly | |
| NM_001927.4:c.883T>G MANE Select | NP_001918.3:p.Trp295Gly | |
| NM_001382708.1:c.880T>G | NP_001369637.1:p.Trp294Gly | |
| NM_001382709.1:c.735+296T>G | NP_001369638.1:n.735+296T>G | |
| NM_001382710.1:c.883T>G | NP_001369639.1:p.Trp295Gly | |
| NM_001382711.1:c.883T>G | NP_001369640.1:p.Trp295Gly | |
| NM_001382712.1:c.883T>G | NP_001369641.1:p.Trp295Gly | |
| NM_001382713.1:c.613T>G | NP_001369642.1:p.Trp205Gly |