ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005434 (AMR)
Exomes Max Group AF
0.00005805 (AMR)
Revel Score:
ENST00000205402 (MANE Select)
0.721
ENST00000417551
0.721
ENST00000440410
0.721
ENST00000437604
0.721
ENST00000539590
0.721
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107901780A>T , CM000669.2:g.107901780A>T | GRCh38 |
| NC_000007.13:g.107542225A>T , CM000669.1:g.107542225A>T | GRCh37 |
| NC_000007.12:g.107329461A>T | NCBI36 |
| NG_008045.1:g.15640A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205402.10:c.161A>T MANE Select | ENSP00000205402.3:p.Tyr54Phe | |
| ENST00000639772.1:c.161A>T | ENSP00000492159.1:p.Tyr54Phe | |
| ENST00000205402.9:c.161A>T | ENSP00000205402.3:p.Tyr54Phe | |
| ENST00000415325.5:c.119-1698A>T | ENSP00000402593.1:n.119-1698A>T | |
| ENST00000417551.5:c.161A>T | ENSP00000390667.1:p.Tyr54Phe | |
| ENST00000437604.6:c.161A>T | ENSP00000387542.2:p.Tyr54Phe | |
| ENST00000440410.5:c.161A>T | ENSP00000417016.1:p.Tyr54Phe | |
| ENST00000450038.5:c.161A>T | ENSP00000409590.1:p.Tyr54Phe | |
| ENST00000451081.5:c.161A>T | ENSP00000388077.1:p.Tyr54Phe | |
| ENST00000453354.5:n.226A>T | ||
| ENST00000460577.5:n.195A>T | ||
| ENST00000494441.1:n.306A>T | ||
| NM_000108.4:c.161A>T | NP_000099.2:p.Tyr54Phe | |
| NM_001289750.1:c.-30-1698A>T | NP_001276679.1:n.-30-1698A>T | |
| NM_001289751.1:c.161A>T | NP_001276680.1:p.Tyr54Phe | |
| NM_001289752.1:c.161A>T | NP_001276681.1:p.Tyr54Phe | |
| NM_000108.5:c.161A>T MANE Select | NP_000099.2:p.Tyr54Phe |