Revel Score:
ENST00000324071 (MANE Select)
0.092
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00008442 (SAS)
Genomes Max Group AF
0.00001921 (AFR)
Exomes Max Group AF
0.00008886 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41007057T>C , CM000681.2:g.41007057T>C | GRCh38 |
| NC_000019.9:g.41512962T>C , CM000681.1:g.41512962T>C | GRCh37 |
| NC_000019.8:g.46204802T>C | NCBI36 |
| NG_007929.1:g.20759T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324071.10:c.637T>C MANE Select | ENSP00000324648.2:p.Phe213Leu | |
| ENST00000598834.2:c.539T>C | ||
| ENST00000324071.8:c.637T>C | ENSP00000324648.2:p.Phe213Leu | |
| ENST00000593831.1:c.256+2611T>C | ENSP00000470582.1:n.256+2611T>C | |
| ENST00000594187.1:n.221T>C | ||
| ENST00000598834.1:n.539T>C | ||
| NM_000767.4:c.637T>C | NP_000758.1:p.Phe213Leu | |
| XM_005258569.3:c.637T>C | XP_005258626.1:p.Phe213Leu | |
| XM_006723050.2:c.637T>C | XP_006723113.1:p.Phe213Leu | |
| XM_011526546.1:c.637T>C | XP_011524848.1:p.Phe213Leu | |
| XM_011526547.1:c.637T>C | XP_011524849.1:p.Phe213Leu | |
| XM_011526548.1:c.484+2611T>C | XP_011524850.1:n.484+2611T>C | |
| XM_011526549.1:c.46T>C | XP_011524851.1:p.Phe16Leu | |
| XM_011526550.1:c.364+2611T>C | XP_011524852.1:n.364+2611T>C | |
| NM_000767.5:c.637T>C MANE Select | NP_000758.1:p.Phe213Leu |