COSMIC:
COSM220520 (not active)
Revel Score:
ENST00000263795 (MANE Select)
0.157
ENST00000381246
0.157
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00636306 (NFE)
Genomes Max Group AF
0.00613791 (NFE)
Exomes Max Group AF
0.00634969 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43861373C>T , CM000677.2:g.43861373C>T | GRCh38 |
| NC_000015.9:g.44153571C>T , CM000677.1:g.44153571C>T | GRCh37 |
| NC_000015.8:g.41940863C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263795.11:c.1603C>T MANE Select | ENSP00000263795.6:p.Leu535Phe | |
| ENST00000263795.10:c.1603C>T | ENSP00000263795.6:p.Leu535Phe | |
| ENST00000381246.6:c.1411C>T | ENSP00000370645.2:p.Leu471Phe | |
| ENST00000478130.1:n.268C>T | ||
| NM_001167941.1:c.1411C>T | NP_001161413.1:p.Leu471Phe | |
| NM_024908.3:c.1603C>T | NP_079184.2:p.Leu535Phe | |
| XM_005254680.2:c.1411C>T | XP_005254737.1:p.Leu471Phe | |
| XM_005254680.3:c.1411C>T | XP_005254737.1:p.Leu471Phe | |
| XR_001751398.2:n.1643C>T | ||
| NM_024908.4:c.1603C>T MANE Select | NP_079184.2:p.Leu535Phe | |
| NM_001167941.2:c.1411C>T | NP_001161413.1:p.Leu471Phe |