Revel Score:
ENST00000355832 (MANE Select)
0.958
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49500634A>G , CM000672.2:g.49500634A>G | GRCh38 |
| NC_000010.10:g.50708680A>G , CM000672.1:g.50708680A>G | GRCh37 |
| NC_000010.9:g.50378686A>G | NCBI36 |
| NG_009442.1:g.43468T>C , LRG_465:g.43468T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.1589T>C MANE Select | ENSP00000348089.5:p.Leu530Pro | |
| ENST00000681632.1:n.1667T>C | ||
| ENST00000681659.1:c.1526+5250T>C | ENSP00000505631.1:n.1526+5250T>C | |
| ENST00000355832.9:c.1589T>C | ENSP00000348089.5:p.Leu530Pro | |
| ENST00000475116.1:n.179T>C | ||
| ENST00000623073.3:c.-11T>C | ENSP00000485650.1:n.-11T>C | |
| ENST00000623115.3:c.-166T>C | ENSP00000485321.1:n.-166T>C | |
| ENST00000623318.1:c.-11T>C | ENSP00000485423.1:n.-11T>C | |
| NM_000124.3:c.1589T>C | NP_000115.1:p.Leu530Pro | |
| NM_001346440.1:c.1589T>C | NP_001333369.1:p.Leu530Pro | |
| NM_000124.4:c.1589T>C MANE Select | NP_000115.1:p.Leu530Pro | |
| NM_001346440.2:c.1589T>C | NP_001333369.1:p.Leu530Pro |