Linked Data
gnomAD v4:
16-176934-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.176934T>A , CM000678.2:g.176934T>A | GRCh38 |
| NC_000016.9:g.226933T>A , CM000678.1:g.226933T>A | GRCh37 |
| NC_000016.8:g.166933T>A | NCBI36 |
| NG_000006.1:g.37797T>A | |
| NG_059186.1:g.5284T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.101T>A MANE Select | ENSP00000322421.5:p.Phe34Tyr | |
| ENST00000397797.1:c.5T>A | ENSP00000380899.1:p.Phe2Tyr | |
| ENST00000472694.1:n.237T>A | ||
| ENST00000487791.1:n.70T>A | ||
| NM_000558.4:c.101T>A | NP_000549.1:p.Phe34Tyr | |
| NM_000558.5:c.101T>A MANE Select | NP_000549.1:p.Phe34Tyr |