Linked Data
ClinVar Variation Id:
1736588
dbSNP Id:
rs778989703
ExAC:
8:19809426 A / T
gnomAD v2:
8-19809426-A-T
gnomAD v3:
8-19951915-A-T
gnomAD v4:
8-19951915-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19951915A>T , CM000670.2:g.19951915A>T | GRCh38 |
| NC_000008.10:g.19809426A>T , CM000670.1:g.19809426A>T | GRCh37 |
| NC_000008.9:g.19853706A>T | NCBI36 |
| NG_008855.1:g.17845A>T | |
| NG_008855.2:g.55199A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.396A>T MANE Select | ENSP00000497642.1:p.Gly132= | |
| ENST00000311322.8:c.396A>T | ENSP00000309757.6:p.Gly132= | |
| ENST00000520959.5:c.168A>T | ENSP00000428496.1:p.Gly56= | |
| NM_000237.2:c.396A>T | NP_000228.1:p.Gly132= | |
| NM_000237.3:c.396A>T MANE Select | NP_000228.1:p.Gly132= |