Revel Score:
ENST00000222381 (MANE Select)
0.032
ENST00000542556
0.032
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.95308134T>A , CM000669.2:g.95308134T>A | GRCh38 |
| NC_000007.13:g.94937446T>A , CM000669.1:g.94937446T>A | GRCh37 |
| NC_000007.12:g.94775382T>A | NCBI36 |
| NG_008779.1:g.21439A>T | |
| NG_008779.2:g.21573A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222381.8:c.575A>T MANE Select | ENSP00000222381.3:p.Gln192Leu | |
| ENST00000222381.7:c.575A>T | ENSP00000222381.3:p.Gln192Leu | |
| ENST00000433729.1:c.*300A>T | ENSP00000407359.1:n.*300A>T | |
| NM_000446.5:c.575A>T | NP_000437.3:p.Gln192Leu | |
| NM_000446.6:c.575A>T | NP_000437.3:p.Gln192Leu | |
| NM_000446.7:c.575A>T MANE Select | NP_000437.3:p.Gln192Leu |