Revel Score:
ENST00000263388 (MANE Select)
0.803
ENST00000539383
0.803
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15197537G>A , CM000681.2:g.15197537G>A | GRCh38 |
| NC_000019.9:g.15308348G>A , CM000681.1:g.15308348G>A | GRCh37 |
| NC_000019.8:g.15169348G>A | NCBI36 |
| NG_009819.1:g.8445C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.160C>T MANE Select | ENSP00000263388.1:p.Arg54Cys | |
| ENST00000263388.6:c.160C>T | ENSP00000263388.1:p.Arg54Cys | |
| ENST00000601011.1:c.157C>T | ENSP00000473138.1:p.Arg53Cys | |
| NM_000435.2:c.160C>T | NP_000426.2:p.Arg54Cys | |
| XM_005259924.3:c.160C>T | XP_005259981.1:p.Arg54Cys | |
| XM_005259924.4:c.160C>T | XP_005259981.1:p.Arg54Cys | |
| NM_000435.3:c.160C>T MANE Select | NP_000426.2:p.Arg54Cys |