Revel Score:
ENST00000542917
0.447
ENST00000267163 (MANE Select)
0.447
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000555 (AMR)
Genomes Max Group AF
0.00002262 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48477403G>T , CM000675.2:g.48477403G>T | GRCh38 |
| NC_000013.10:g.49051539G>T , CM000675.1:g.49051539G>T | GRCh37 |
| NC_000013.9:g.47949540G>T | NCBI36 |
| NG_009009.1:g.178657G>T , LRG_517:g.178657G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.2712G>T MANE Select | ENSP00000267163.4:p.Met904Ile | |
| ENST00000643064.1:c.194+95960G>T | ||
| ENST00000650461.1:c.2712G>T | ENSP00000497193.1:p.Met904Ile | |
| ENST00000267163.4:c.2712G>T | ENSP00000267163.4:p.Met904Ile | |
| ENST00000484879.1:n.446G>T | ||
| ENST00000531171.5:n.315G>T | ||
| NM_000321.2:c.2712G>T , LRG_517t1:c.2712G>T | NP_000312.2:p.Met904Ile | |
| XM_011535171.1:c.2451G>T | XP_011533473.1:p.Met817Ile | |
| XM_011535171.2:c.2451G>T | XP_011533473.1:p.Met817Ile | |
| NM_000321.3:c.2712G>T MANE Select | NP_000312.2:p.Met904Ile |