Linked Data
ClinVar Variation Id:
5927
ClinVar RCV Id:
RCV000006290
dbSNP Id:
rs104893722
PubMed:
PMID:10390358
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190404905G>A , CM000665.2:g.190404905G>A | GRCh38 |
| NC_000003.11:g.190122694G>A , CM000665.1:g.190122694G>A | GRCh37 |
| NC_000003.10:g.191605388G>A | NCBI36 |
| NG_008149.1:g.21854G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264734.3:c.361G>A MANE Select | ENSP00000264734.3:p.Gly121Arg | |
| ENST00000456423.2:c.115-4998G>A | ENSP00000414136.2:n.115-4998G>A | |
| ENST00000264734.2:c.571G>A | ENSP00000264734.2:p.Gly191Arg | |
| ENST00000456423.1:c.325-4998G>A | ENSP00000414136.1:n.325-4998G>A | |
| ENST00000468220.1:n.553G>A | ||
| NM_006580.3:c.571G>A | NP_006571.1:p.Gly191Arg | |
| NM_001378492.1:c.361G>A | NP_001365421.1:p.Gly121Arg | |
| NM_001378493.1:c.361G>A | NP_001365422.1:p.Gly121Arg | |
| NM_006580.4:c.361G>A MANE Select | NP_006571.2:p.Gly121Arg |