Revel Score:
ENST00000264079 (MANE Select)
0.896
ENST00000394321
0.896
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003584 (NFE)
Genomes Max Group AF
0.00003762 (NFE)
Exomes Max Group AF
0.00003343 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7528920G>T , CM000681.2:g.7528920G>T | GRCh38 |
| NC_000019.9:g.7593806G>T , CM000681.1:g.7593806G>T | GRCh37 |
| NC_000019.8:g.7499806G>T | NCBI36 |
| NG_015806.1:g.11311G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1084G>T MANE Select | ENSP00000264079.5:p.Asp362Tyr | |
| ENST00000264079.10:c.1084G>T | ENSP00000264079.5:p.Asp362Tyr | |
| ENST00000394321.9:n.1399G>T | ||
| ENST00000595860.5:n.267G>T | ||
| NM_020533.2:c.1084G>T | NP_065394.1:p.Asp362Tyr | |
| NM_020533.3:c.1084G>T MANE Select | NP_065394.1:p.Asp362Tyr |