Linked Data
ClinVar Variation Id:
1650477
ClinVar RCV Id:
RCV002149032
dbSNP Id:
rs767022758
ExAC:
8:102611310 G / A
gnomAD v2:
8-102611310-G-A
gnomAD v3:
8-101599082-G-A
gnomAD v4:
8-101599082-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.101599082G>A , CM000670.2:g.101599082G>A | GRCh38 |
| NC_000008.10:g.102611310G>A , CM000670.1:g.102611310G>A | GRCh37 |
| NC_000008.9:g.102680486G>A | NCBI36 |
| NG_011971.1:g.111643G>A | |
| NG_011971.2:g.111643G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646743.1:c.1029G>A MANE Select | ENSP00000495564.1:p.Thr343= | |
| ENST00000251808.7:c.1029G>A | ENSP00000251808.3:p.Thr343= | |
| ENST00000395927.1:c.981G>A | ENSP00000379260.1:p.Thr327= | |
| NM_024915.3:c.1029G>A | NP_079191.2:p.Thr343= | |
| XM_011517305.1:c.981G>A | XP_011515607.1:p.Thr327= | |
| XM_011517306.1:c.981G>A | XP_011515608.1:p.Thr327= | |
| XM_011517307.1:c.1029G>A | XP_011515609.1:p.Thr343= | |
| NM_001330593.1:c.981G>A | NP_001317522.1:p.Thr327= | |
| XM_011517306.3:c.981G>A | XP_011515608.1:p.Thr327= | |
| XM_011517307.3:c.1029G>A | XP_011515609.1:p.Thr343= | |
| NM_001330593.2:c.981G>A | NP_001317522.1:p.Thr327= | |
| NM_024915.4:c.1029G>A MANE Select | NP_079191.2:p.Thr343= |