Linked Data
ClinVar Variation Id:
2155082
ClinVar RCV Id:
RCV003089305
dbSNP Id:
rs1324713631
gnomAD v4:
9-128945848-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128945848A>T , CM000671.2:g.128945848A>T | GRCh38 |
| NC_000009.11:g.131708127A>T , CM000671.1:g.131708127A>T | GRCh37 |
| NC_000009.10:g.130747948A>T | NCBI36 |
| NG_017009.1:g.6886T>A , LRG_744:g.6886T>A | |
| NG_033111.1:g.3156A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372586.4:c.1456T>A MANE Select | ENSP00000361667.3:p.Ser486Thr | |
| ENST00000372586.3:c.1456T>A | ENSP00000361667.3:p.Ser486Thr | |
| ENST00000482796.1:c.39-3341A>T | ENSP00000417556.2:n.39-3341A>T | |
| NM_014908.3:c.1456T>A , LRG_744t1:c.1456T>A | NP_055723.1:p.Ser486Thr | |
| NM_014908.4:c.1456T>A MANE Select | NP_055723.1:p.Ser486Thr |