Revel Score:
ENST00000264382 (MANE Select)
0.285
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.92286246 (EAS)
Genomes Max Group AF
0.92397076 (NFE)
Exomes Max Group AF
0.92351718 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.164996744C>T , CM000665.2:g.164996744C>T | GRCh38 |
| NC_000003.11:g.164714532C>T , CM000665.1:g.164714532C>T | GRCh37 |
| NC_000003.10:g.166197226C>T | NCBI36 |
| NG_017043.1:g.86752G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264382.8:c.4569G>A MANE Select | ENSP00000264382.3:p.Met1523Ile | |
| ENST00000264382.7:c.4569G>A | ENSP00000264382.3:p.Met1523Ile | |
| NM_001041.3:c.4569G>A | NP_001032.2:p.Met1523Ile | |
| XM_011513078.1:c.4470G>A | XP_011511380.1:p.Met1490Ile | |
| XM_011513078.2:c.4470G>A | XP_011511380.1:p.Met1490Ile | |
| NM_001041.4:c.4569G>A MANE Select | NP_001032.2:p.Met1523Ile |