Revel Score:
ENST00000317744 (MANE Select)
0.457
ENST00000539421
0.457
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00011204 (AFR)
Genomes Max Group AF
0.00007887 (AFR)
Exomes Max Group AF
0.0000975 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6120339C>T , CM000679.2:g.6120339C>T | GRCh38 |
| NC_000017.10:g.6023659C>T , CM000679.1:g.6023659C>T | GRCh37 |
| NC_000017.9:g.5964383C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317744.10:c.1406C>T MANE Select | ENSP00000323087.5:p.Ser469Leu | |
| ENST00000317744.9:c.1406C>T | ENSP00000323087.5:p.Ser469Leu | |
| ENST00000539421.1:c.1406C>T | ENSP00000446032.1:p.Ser469Leu | |
| ENST00000571494.1:c.1206C>T | ||
| ENST00000573634.5:c.1058C>T | ENSP00000460396.1:p.Ser353Leu | |
| ENST00000574232.5:c.1406C>T | ENSP00000458374.1:p.Ser469Leu | |
| ENST00000574946.5:c.1406C>T | ENSP00000460825.1:p.Ser469Leu | |
| NM_015253.1:c.1406C>T | NP_056068.1:p.Ser469Leu | |
| XM_005256572.1:c.1406C>T | XP_005256629.1:p.Ser469Leu | |
| XM_005256573.1:c.1406C>T | XP_005256630.1:p.Ser469Leu | |
| XM_011523776.1:c.1406C>T | XP_011522078.1:p.Ser469Leu | |
| XM_005256572.2:c.1406C>T | XP_005256629.1:p.Ser469Leu | |
| XM_024450682.1:c.1406C>T | XP_024306450.1:p.Ser469Leu | |
| NM_001388405.1:c.1406C>T | NP_001375334.1:p.Ser469Leu | |
| NM_001388406.1:c.1406C>T | NP_001375335.1:p.Ser469Leu | |
| NM_001388407.1:c.1406C>T | NP_001375336.1:p.Ser469Leu | |
| NM_001388408.1:c.902C>T | NP_001375337.1:p.Ser301Leu | |
| NM_001388409.1:c.902C>T | NP_001375338.1:p.Ser301Leu | |
| NM_015253.2:c.1406C>T MANE Select | NP_056068.1:p.Ser469Leu |