Linked Data
ClinVar Variation Id:
2256424
ClinVar RCV Id:
RCV002777515
dbSNP Id:
rs1470514403
gnomAD v2:
17-7906568-T-A
gnomAD v4:
17-8003250-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8003250T>A , CM000679.2:g.8003250T>A | GRCh38 |
| NC_000017.10:g.7906568T>A , CM000679.1:g.7906568T>A | GRCh37 |
| NC_000017.9:g.7847293T>A | NCBI36 |
| NG_009092.1:g.5581T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254854.5:c.203T>A MANE Select | ENSP00000254854.4:p.Phe68Tyr | |
| ENST00000254854.4:c.203T>A | ENSP00000254854.4:p.Phe68Tyr | |
| NM_000180.3:c.203T>A | NP_000171.1:p.Phe68Tyr | |
| XM_011523816.1:c.203T>A | XP_011522118.1:p.Phe68Tyr | |
| NM_000180.4:c.203T>A MANE Select | NP_000171.1:p.Phe68Tyr |