Revel Score:
ENST00000378970 (MANE Select)
0.575
ENST00000453287
0.575
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30308851C>A , CM000685.2:g.30308851C>A | GRCh38 |
| NC_000023.10:g.30326968C>A , CM000685.1:g.30326968C>A | GRCh37 |
| NC_000023.9:g.30236889C>A | NCBI36 |
| NG_009814.1:g.5528G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378970.5:c.513G>T MANE Select | ENSP00000368253.4:p.Trp171Cys | |
| ENST00000378970.4:c.513G>T | ENSP00000368253.4:p.Trp171Cys | |
| NM_000475.4:c.513G>T | NP_000466.2:p.Trp171Cys | |
| NM_000475.5:c.513G>T MANE Select | NP_000466.2:p.Trp171Cys |