Revel Score:
ENST00000394321
0.017
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7526579C>T , CM000681.2:g.7526579C>T | GRCh38 |
| NC_000019.9:g.7591465C>T , CM000681.1:g.7591465C>T | GRCh37 |
| NC_000019.8:g.7497465C>T | NCBI36 |
| NG_015806.1:g.8970C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.378C>T MANE Select | ENSP00000264079.5:p.Tyr126= | |
| ENST00000264079.10:c.378C>T | ENSP00000264079.5:p.Tyr126= | |
| ENST00000394321.9:n.458C>T | ||
| ENST00000596008.1:n.340C>T | ||
| ENST00000598406.1:n.199C>T | ||
| ENST00000601003.1:c.378C>T | ENSP00000469074.1:p.Tyr126= | |
| NM_020533.2:c.378C>T | NP_065394.1:p.Tyr126= | |
| NM_020533.3:c.378C>T MANE Select | NP_065394.1:p.Tyr126= |