Revel Score:
ENST00000264005 (MANE Select)
0.969
gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67940193G>T , CM000678.2:g.67940193G>T | GRCh38 |
| NC_000016.9:g.67974096G>T , CM000678.1:g.67974096G>T | GRCh37 |
| NC_000016.8:g.66531597G>T | NCBI36 |
| NG_009778.1:g.8920C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.1034C>A MANE Select | ENSP00000264005.5:p.Thr345Lys | |
| ENST00000264005.9:c.1034C>A | ENSP00000264005.5:p.Thr345Lys | |
| ENST00000570369.5:c.156-119C>A | ||
| ENST00000573538.5:c.772C>A | ENSP00000463220.1:n.772C>A | |
| NM_000229.1:c.1034C>A | NP_000220.1:p.Thr345Lys | |
| NM_000229.2:c.1034C>A MANE Select | NP_000220.1:p.Thr345Lys |