Linked Data
ClinVar Variation Id:
3127916
ClinVar RCV Id:
RCV004417749
dbSNP Id:
rs1663248267
gnomAD v4:
2-21009579-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21009579A>T , CM000664.2:g.21009579A>T | GRCh38 |
| NC_000002.11:g.21232451A>T , CM000664.1:g.21232451A>T | GRCh37 |
| NC_000002.10:g.21085956A>T | NCBI36 |
| NG_011793.1:g.39495T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.7289T>A MANE Select | ENSP00000233242.1:p.Phe2430Tyr | |
| ENST00000616098.4:c.7289T>A | ENSP00000477990.1:p.Phe2430Tyr | |
| NM_000384.2:c.7289T>A | NP_000375.2:p.Phe2430Tyr | |
| XM_011532809.1:c.5869+1154T>A | XP_011531111.1:n.5869+1154T>A | |
| NM_000384.3:c.7289T>A MANE Select | NP_000375.3:p.Phe2430Tyr |