Linked Data
ClinVar Variation Id:
16387
ClinVar RCV Id:
RCV000017811
dbSNP Id:
rs121909620
gnomAD v4:
4-154565985-G-A
PubMed:
PMID:1634610
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154565985G>A , CM000666.2:g.154565985G>A | GRCh38 |
| NC_000004.11:g.155487137G>A , CM000666.1:g.155487137G>A | GRCh37 |
| NC_000004.10:g.155706587G>A | NCBI36 |
| NG_008833.1:g.8006G>A , LRG_558:g.8006G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302068.9:c.292G>A MANE Select | ENSP00000306099.4:p.Ala98Thr | |
| ENST00000302068.8:c.292G>A | ENSP00000306099.4:p.Ala98Thr | |
| ENST00000425838.5:c.*204G>A | ENSP00000398719.1:n.*204G>A | |
| ENST00000473984.1:n.205G>A | ||
| ENST00000497097.5:n.299G>A | ||
| ENST00000498375.2:n.922G>A | ||
| ENST00000502545.5:n.273G>A | ||
| ENST00000509493.1:c.-167-1608G>A | ENSP00000426757.1:n.-167-1608G>A | |
| NM_001184741.1:c.165+127G>A | NP_001171670.1:n.165+127G>A | |
| NM_005141.4:c.292G>A , LRG_558t1:c.292G>A | NP_005132.2:p.Ala98Thr | |
| NM_001382759.1:c.292G>A | NP_001369688.1:p.Ala98Thr | |
| NM_001382760.1:c.292G>A | NP_001369689.1:p.Ala98Thr | |
| NM_001382761.1:c.292G>A | NP_001369690.1:p.Ala98Thr | |
| NM_001382762.1:c.292G>A | NP_001369691.1:p.Ala98Thr | |
| NM_001382763.1:c.292G>A | NP_001369692.1:p.Ala98Thr | |
| NM_001382764.1:c.292G>A | NP_001369693.1:p.Ala98Thr | |
| NM_001382765.1:c.292G>A | NP_001369694.1:p.Ala98Thr | |
| NM_005141.5:c.292G>A MANE Select | NP_005132.2:p.Ala98Thr |