Revel Score:
ENST00000263388 (MANE Select)
0.844
ENST00000539383
0.844
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15192504C>A , CM000681.2:g.15192504C>A | GRCh38 |
| NC_000019.9:g.15303315C>A , CM000681.1:g.15303315C>A | GRCh37 |
| NC_000019.8:g.15164315C>A | NCBI36 |
| NG_009819.1:g.13478G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.213G>T MANE Select | ENSP00000263388.1:p.Trp71Cys | |
| ENST00000263388.6:c.213G>T | ENSP00000263388.1:p.Trp71Cys | |
| ENST00000601011.1:c.210G>T | ENSP00000473138.1:p.Trp70Cys | |
| NM_000435.2:c.213G>T | NP_000426.2:p.Trp71Cys | |
| XM_005259924.3:c.213G>T | XP_005259981.1:p.Trp71Cys | |
| XM_005259924.4:c.213G>T | XP_005259981.1:p.Trp71Cys | |
| NM_000435.3:c.213G>T MANE Select | NP_000426.2:p.Trp71Cys |