Linked Data
ClinVar Variation Id:
30246
dbSNP Id:
rs387906831
gnomAD v4:
1-20654660-C-T
PubMed:
PMID:22305527
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20654660C>T , CM000663.2:g.20654660C>T | GRCh38 |
| NC_000001.10:g.20981153C>T , CM000663.1:g.20981153C>T | GRCh37 |
| NC_000001.9:g.20853740C>T | NCBI36 |
| NG_032064.1:g.11885G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000602624.7:c.599G>A MANE Select | ENSP00000473655.2:p.Gly200Asp | |
| ENST00000375048.7:c.650G>A | ENSP00000364188.3:p.Gly217Asp | |
| ENST00000415136.6:c.650G>A | ENSP00000399457.3:p.Gly217Asp | |
| ENST00000602624.6:c.599G>A | ENSP00000473655.1:p.Gly200Asp | |
| NM_005216.4:c.650G>A | NP_005207.2:p.Gly217Asp | |
| NM_005216.5:c.599G>A MANE Select | NP_005207.3:p.Gly200Asp |