Revel Score:
ENST00000264079 (MANE Select)
0.687
ENST00000394321
0.687
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000688 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00000575 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7530332A>G , CM000681.2:g.7530332A>G | GRCh38 |
| NC_000019.9:g.7595218A>G , CM000681.1:g.7595218A>G | GRCh37 |
| NC_000019.8:g.7501218A>G | NCBI36 |
| NG_013374.1:g.1181A>G | |
| NG_015806.1:g.12723A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1406A>G MANE Select | ENSP00000264079.5:p.Asn469Ser | |
| ENST00000264079.10:c.1406A>G | ENSP00000264079.5:p.Asn469Ser | |
| ENST00000394321.9:n.1721A>G | ||
| ENST00000594692.1:n.402A>G | ||
| ENST00000595860.5:n.589A>G | ||
| ENST00000599334.1:c.237-103A>G | ||
| NM_020533.2:c.1406A>G | NP_065394.1:p.Asn469Ser | |
| NM_020533.3:c.1406A>G MANE Select | NP_065394.1:p.Asn469Ser |