Linked Data
dbSNP Id:
rs776600964
ExAC:
11:69462864 A / T
gnomAD v2:
11-69462864-A-T
gnomAD v4:
11-69648096-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69648096A>T , CM000673.2:g.69648096A>T | GRCh38 |
| NC_000011.9:g.69462864A>T , CM000673.1:g.69462864A>T | GRCh37 |
| NC_000011.8:g.69172045A>T | NCBI36 |
| NG_007375.1:g.11992A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.677A>T MANE Select | ENSP00000227507.2:p.Tyr226Phe | |
| ENST00000227507.2:c.677A>T | ENSP00000227507.2:p.Tyr226Phe | |
| ENST00000536559.1:c.*97A>T | ENSP00000438482.1:n.*97A>T | |
| ENST00000542367.1:n.140A>T | ||
| ENST00000545484.1:n.383A>T | ||
| NM_053056.2:c.677A>T | NP_444284.1:p.Tyr226Phe | |
| XM_006718653.2:c.701A>T | XP_006718716.1:p.Tyr234Phe | |
| NM_053056.3:c.677A>T MANE Select | NP_444284.1:p.Tyr226Phe |