Linked Data
ClinVar Variation Id:
1018970
dbSNP Id:
rs1182044412
gnomAD v2:
1-55525205-G-T
gnomAD v4:
1-55059532-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55059532G>T , CM000663.2:g.55059532G>T | GRCh38 |
| NC_000001.10:g.55525205G>T , CM000663.1:g.55525205G>T | GRCh37 |
| NC_000001.9:g.55297793G>T | NCBI36 |
| NG_009061.1:g.24986G>T , LRG_275:g.24986G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.1550G>T | ENSP00000501161.2:p.Gly517Val | |
| ENST00000710286.1:c.1907G>T | ENSP00000518176.1:p.Gly636Val | |
| ENST00000673903.1:c.1175G>T | ENSP00000501257.1:p.Gly392Val | |
| ENST00000673913.1:c.290G>T | ENSP00000501161.1:p.Gly97Val | |
| ENST00000302118.5:c.1550G>T MANE Select | ENSP00000303208.5:p.Gly517Val | |
| ENST00000490692.1:n.2227+885G>T | ||
| NM_174936.3:c.1550G>T , LRG_275t1:c.1550G>T | NP_777596.2:p.Gly517Val | |
| NR_110451.1:n.1157G>T | ||
| XM_011541193.1:c.671G>T | XP_011539495.1:p.Gly224Val | |
| NM_174936.4:c.1550G>T MANE Select | NP_777596.2:p.Gly517Val | |
| NR_110451.2:n.1157G>T |