Revel Score:
ENST00000447394
0.185
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.05016834 (NFE)
Genomes Max Group AF
0.05207341 (NFE)
Exomes Max Group AF
0.04997392 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32814372G>A , CM000668.2:g.32814372G>A | GRCh38 |
| NC_000006.11:g.32782149G>A , CM000668.1:g.32782149G>A | GRCh37 |
| NC_000006.10:g.32890127G>A | NCBI36 |
| NG_009793.3:g.29399C>T | |
| NG_012008.1:g.7677C>T | |
| NG_009793.4:g.29399C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000438763.7:c.591C>T MANE Select | ENSP00000390020.2:p.Tyr197= | |
| ENST00000648009.1:c.591C>T | ENSP00000496848.1:p.Tyr197= | |
| ENST00000438763.6:c.591C>T | ENSP00000390020.2:p.Tyr197= | |
| ENST00000447394.1:c.541C>T | ||
| ENST00000452392.2:c.2412C>T | ENSP00000391806.2:p.Tyr804= | |
| ENST00000475235.1:n.628C>T | ||
| ENST00000488325.5:c.*362C>T | ENSP00000436618.1:n.*362C>T | |
| NM_002120.3:c.591C>T | NP_002111.1:p.Tyr197= | |
| NM_002120.4:c.591C>T MANE Select | NP_002111.1:p.Tyr197= |