Revel Score:
ENST00000447092
0.709
ENST00000357750 (MANE Select)
0.709
ENST00000395139
0.709
ENST00000442581
0.709
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000739 (EAS)
Exomes Max Group AF
0.00000835 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50319741G>A , CM000665.2:g.50319741G>A | GRCh38 |
| NC_000003.11:g.50357172G>A , CM000665.1:g.50357172G>A | GRCh37 |
| NC_000003.10:g.50332176G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357750.9:c.749C>T MANE Select | ENSP00000350387.4:p.Pro250Leu | |
| ENST00000357750.8:c.749C>T | ENSP00000350387.4:p.Pro250Leu | |
| ENST00000395139.7:c.749C>T | ENSP00000378571.3:p.Pro250Leu | |
| ENST00000442581.1:c.749C>T | ENSP00000406657.1:p.Pro250Leu | |
| ENST00000447092.5:c.749C>T | ENSP00000401853.1:p.Pro250Leu | |
| ENST00000481597.5:n.884C>T | ||
| NM_003773.4:c.749C>T | NP_003764.3:p.Pro250Leu | |
| NM_033158.4:c.749C>T | NP_149348.2:p.Pro250Leu | |
| XM_005265524.1:c.749C>T | XP_005265581.1:p.Pro250Leu | |
| XM_005265525.1:c.749C>T | XP_005265582.1:p.Pro250Leu | |
| XM_005265524.2:c.749C>T | XP_005265581.1:p.Pro250Leu | |
| XM_005265525.2:c.749C>T | XP_005265582.1:p.Pro250Leu | |
| NM_003773.5:c.749C>T MANE Select | NP_003764.3:p.Pro250Leu | |
| NM_033158.5:c.749C>T | NP_149348.2:p.Pro250Leu |