Linked Data
ClinVar Variation Id:
497589
dbSNP Id:
rs1281862962
gnomAD v2:
4-52899711-T-A
gnomAD v3:
4-52033545-T-A
gnomAD v4:
4-52033545-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52033545T>A , CM000666.2:g.52033545T>A | GRCh38 |
| NC_000004.11:g.52899711T>A , CM000666.1:g.52899711T>A | GRCh37 |
| NC_000004.10:g.52594468T>A | NCBI36 |
| NG_008891.1:g.9775A>T , LRG_204:g.9775A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.129A>T MANE Select | ENSP00000370839.6:p.Gly43= | |
| ENST00000381431.9:c.129A>T | ENSP00000370839.5:p.Gly43= | |
| ENST00000506357.5:c.115A>T | ||
| ENST00000514133.1:c.96A>T | ENSP00000425818.1:p.Gly32= | |
| NM_000232.4:c.129A>T , LRG_204t1:c.129A>T | NP_000223.1:p.Gly43= | |
| XM_011534403.1:c.34-3682A>T | XP_011532705.1:n.34-3682A>T | |
| NM_000232.5:c.129A>T MANE Select | NP_000223.1:p.Gly43= |