Revel Score:
ENST00000246792 (MANE Select)
0.112
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49640071C>T , CM000681.2:g.49640071C>T | GRCh38 |
| NC_000019.9:g.50143328C>T , CM000681.1:g.50143328C>T | GRCh37 |
| NC_000019.8:g.54835140C>T | NCBI36 |
| NG_042222.1:g.5073G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246792.4:c.28G>A MANE Select | ENSP00000246792.2:p.Gly10Arg | |
| ENST00000246792.3:c.28G>A | ENSP00000246792.2:p.Gly10Arg | |
| ENST00000601532.1:n.52G>A | ||
| NM_006270.3:c.28G>A | NP_006261.1:p.Gly10Arg | |
| NM_006270.4:c.28G>A | NP_006261.1:p.Gly10Arg | |
| NM_006270.5:c.28G>A MANE Select | NP_006261.1:p.Gly10Arg |