Revel Score:
ENST00000366667 (MANE Select)
0.433
ENST00000430091
0.433
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0017094 (SAS)
Genomes Max Group AF
0.00143463 (SAS)
Exomes Max Group AF
0.00167423 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.230710823T>A , CM000663.2:g.230710823T>A | GRCh38 |
| NC_000001.10:g.230846569T>A , CM000663.1:g.230846569T>A | GRCh37 |
| NC_000001.9:g.228913192T>A | NCBI36 |
| NG_008836.1:g.8768A>T | |
| NG_008836.2:g.8768A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366667.6:c.1A>T MANE Select | ENSP00000355627.5:p.Met1Leu | |
| ENST00000679684.1:c.1A>T | ENSP00000505981.1:p.Met1Leu | |
| ENST00000679738.1:c.1A>T | ENSP00000505063.1:p.Met1Leu | |
| ENST00000679802.1:c.1A>T | ENSP00000505184.1:p.Met1Leu | |
| ENST00000679854.1:n.512A>T | ||
| ENST00000679957.1:c.1A>T | ENSP00000506646.1:p.Met1Leu | |
| ENST00000680041.1:c.1A>T | ENSP00000504866.1:p.Met1Leu | |
| ENST00000680783.1:c.1A>T | ENSP00000506329.1:p.Met1Leu | |
| ENST00000681269.1:c.1A>T | ENSP00000505985.1:p.Met1Leu | |
| ENST00000681347.1:n.512A>T | ||
| ENST00000681514.1:c.1A>T | ENSP00000505963.1:p.Met1Leu | |
| ENST00000681772.1:c.1A>T | ENSP00000505829.1:p.Met1Leu | |
| ENST00000366667.4:c.28A>T | ENSP00000355627.4:p.Met10Leu | |
| NM_000029.3:c.28A>T | NP_000020.1:p.Met10Leu | |
| NM_000029.4:c.28A>T | NP_000020.1:p.Met10Leu | |
| NM_001382817.3:c.1A>T | NP_001369746.2:p.Met1Leu | |
| NM_001384479.1:c.1A>T MANE Select | NP_001371408.1:p.Met1Leu |