Revel Score:
ENST00000355832 (MANE Select)
0.958
ENST00000374129
0.958
ENST00000542458
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.49482848G>A , CM000672.2:g.49482848G>A | GRCh38 |
| NC_000010.10:g.50690894G>A , CM000672.1:g.50690894G>A | GRCh37 |
| NC_000010.9:g.50360900G>A | NCBI36 |
| NG_009442.1:g.61254C>T , LRG_465:g.61254C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.2008C>T MANE Select | ENSP00000348089.5:p.Arg670Trp | |
| ENST00000681632.1:n.2086C>T | ||
| ENST00000681659.1:c.1849C>T | ENSP00000505631.1:p.Arg617Trp | |
| ENST00000355832.9:c.2008C>T | ENSP00000348089.5:p.Arg670Trp | |
| ENST00000623073.3:c.*400C>T | ENSP00000485650.1:n.*400C>T | |
| ENST00000623115.3:c.118C>T | ENSP00000485321.1:p.Arg40Trp | |
| NM_000124.3:c.2008C>T | NP_000115.1:p.Arg670Trp | |
| NM_001346440.1:c.2008C>T | NP_001333369.1:p.Arg670Trp | |
| NM_000124.4:c.2008C>T MANE Select | NP_000115.1:p.Arg670Trp | |
| NM_001346440.2:c.2008C>T | NP_001333369.1:p.Arg670Trp |