Linked Data
ClinVar Variation Id:
431557
dbSNP Id:
rs891322948
gnomAD v2:
1-55525202-G-T
gnomAD v3:
1-55059529-G-T
gnomAD v4:
1-55059529-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55059529G>T , CM000663.2:g.55059529G>T | GRCh38 |
| NC_000001.10:g.55525202G>T , CM000663.1:g.55525202G>T | GRCh37 |
| NC_000001.9:g.55297790G>T | NCBI36 |
| NG_009061.1:g.24983G>T , LRG_275:g.24983G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.1547G>T | ENSP00000501161.2:p.Gly516Val | |
| ENST00000710286.1:c.1904G>T | ENSP00000518176.1:p.Gly635Val | |
| ENST00000673903.1:c.1172G>T | ENSP00000501257.1:p.Gly391Val | |
| ENST00000673913.1:c.287G>T | ENSP00000501161.1:p.Gly96Val | |
| ENST00000302118.5:c.1547G>T MANE Select | ENSP00000303208.5:p.Gly516Val | |
| ENST00000490692.1:n.2227+882G>T | ||
| NM_174936.3:c.1547G>T , LRG_275t1:c.1547G>T | NP_777596.2:p.Gly516Val | |
| NR_110451.1:n.1154G>T | ||
| XM_011541193.1:c.668G>T | XP_011539495.1:p.Gly223Val | |
| NM_174936.4:c.1547G>T MANE Select | NP_777596.2:p.Gly516Val | |
| NR_110451.2:n.1154G>T |