Revel Score:
ENST00000505308
0.455
ENST00000265000 (MANE Select)
0.411
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00015369 (AMR)
Genomes Max Group AF
0.00005302 (AMR)
Exomes Max Group AF
0.00015449 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.173314055C>T , CM000666.2:g.173314055C>T | GRCh38 |
| NC_000004.11:g.174235206C>T , CM000666.1:g.174235206C>T | GRCh37 |
| NC_000004.10:g.174471781C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505308.6:c.1487C>T | ENSP00000427095.2:p.Ser496Leu | |
| ENST00000265000.9:c.1487C>T MANE Select | ENSP00000265000.4:p.Ser496Leu | |
| ENST00000265000.8:c.1487C>T | ENSP00000265000.4:p.Ser496Leu | |
| ENST00000503213.1:c.198C>T | ||
| ENST00000505308.5:c.877C>T | ||
| NM_017423.2:c.1487C>T | NP_059119.2:p.Ser496Leu | |
| XM_005263062.1:c.1487C>T | XP_005263119.1:p.Ser496Leu | |
| XM_011532025.1:c.1364C>T | XP_011530327.1:p.Ser455Leu | |
| XM_005263062.2:c.1487C>T | XP_005263119.1:p.Ser496Leu | |
| XM_011532025.3:c.1364C>T | XP_011530327.1:p.Ser455Leu | |
| XM_017008292.2:c.1439C>T | XP_016863781.1:p.Ser480Leu | |
| XM_017008293.1:c.1439C>T | XP_016863782.1:p.Ser480Leu | |
| NM_017423.3:c.1487C>T MANE Select | NP_059119.2:p.Ser496Leu | |
| NM_001375599.1:c.1487C>T | NP_001362528.1:p.Ser496Leu | |
| NM_001375600.1:c.1487C>T | NP_001362529.1:p.Ser496Leu | |
| NM_001375601.1:c.1106C>T | NP_001362530.1:p.Ser369Leu |