Linked Data
ClinVar Variation Id:
12205
ClinVar RCV Id:
RCV000012989
dbSNP Id:
rs121964883
gnomAD v4:
20-3083156-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3083156C>A , CM000682.2:g.3083156C>A | GRCh38 |
| NC_000020.10:g.3063802C>A , CM000682.1:g.3063802C>A | GRCh37 |
| NC_000020.9:g.3011802C>A | NCBI36 |
| NG_008663.1:g.6569G>T , LRG_715:g.6569G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380293.3:c.143G>T MANE Select | ENSP00000369647.3:p.Gly48Val | |
| NM_000490.4:c.143G>T , LRG_715t1:c.143G>T | NP_000481.2:p.Gly48Val | |
| XM_011529267.1:c.143G>T | XP_011527569.1:p.Gly48Val | |
| XM_011529267.2:c.143G>T | XP_011527569.1:p.Gly48Val | |
| NM_000490.5:c.143G>T MANE Select | NP_000481.2:p.Gly48Val |