Linked Data
ClinVar Variation Id:
2259653
ClinVar RCV Id:
RCV004115447
dbSNP Id:
rs1417903820
gnomAD v2:
11-18723471-A-G
gnomAD v4:
11-18701924-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.18701924A>G , CM000673.2:g.18701924A>G | GRCh38 |
| NC_000011.9:g.18723471A>G , CM000673.1:g.18723471A>G | GRCh37 |
| NC_000011.8:g.18680047A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280734.3:c.638A>G MANE Select | ENSP00000280734.2:p.Tyr213Cys | |
| ENST00000280734.2:c.638A>G | ENSP00000280734.2:p.Tyr213Cys | |
| NM_153347.2:c.638A>G | NP_699178.1:p.Tyr213Cys | |
| NM_153347.3:c.638A>G MANE Select | NP_699178.1:p.Tyr213Cys |