Revel Score:
ENST00000307340 (MANE Select)
0.738
ENST00000366943
0.738
gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216046532C>A , CM000663.2:g.216046532C>A | GRCh38 |
| NC_000001.10:g.216219874C>A , CM000663.1:g.216219874C>A | GRCh37 |
| NC_000001.9:g.214286497C>A | NCBI36 |
| NG_009497.1:g.381865G>T | |
| NG_009497.2:g.381917G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.6224G>T MANE Select | ENSP00000305941.3:p.Trp2075Leu | |
| ENST00000674083.1:c.6224G>T | ENSP00000501296.1:p.Trp2075Leu | |
| ENST00000307340.7:c.6224G>T | ENSP00000305941.3:p.Trp2075Leu | |
| NM_206933.2:c.6224G>T | NP_996816.2:p.Trp2075Leu | |
| NM_206933.3:c.6224G>T | NP_996816.2:p.Trp2075Leu | |
| NM_206933.4:c.6224G>T MANE Select | NP_996816.3:p.Trp2075Leu |