Revel Score:
ENST00000483348
0.257
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.69047037 (EAS)
Genomes Max Group AF
0.67335854 (EAS)
Exomes Max Group AF
0.69066532 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1699590G>A , CM000666.2:g.1699590G>A | GRCh38 |
| NC_000004.11:g.1701317G>A , CM000666.1:g.1701317G>A | GRCh37 |
| NC_000004.10:g.1671115G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000489418.6:c.453C>T MANE Select | ENSP00000417686.1:p.Tyr151= | |
| ENST00000318386.8:c.474C>T | ENSP00000316490.4:p.Tyr158= | |
| ENST00000429429.6:c.336C>T | ENSP00000406322.2:p.Tyr112= | |
| ENST00000480936.1:c.475C>T | ||
| ENST00000483348.5:c.317C>T | ||
| ENST00000488267.5:c.348C>T | ENSP00000418658.1:p.Tyr116= | |
| ENST00000489418.5:c.453C>T | ENSP00000417686.1:p.Tyr151= | |
| NM_001306074.1:c.348C>T | NP_001293003.1:p.Tyr116= | |
| NM_001306075.1:c.336C>T | NP_001293004.1:p.Tyr112= | |
| NM_006527.2:c.453C>T | NP_006518.1:p.Tyr151= | |
| NM_006527.3:c.453C>T | NP_006518.1:p.Tyr151= | |
| XR_002959759.1:n.4141C>T | ||
| NM_006527.4:c.453C>T MANE Select | NP_006518.1:p.Tyr151= | |
| NM_001306074.2:c.348C>T | NP_001293003.1:p.Tyr116= | |
| NM_001306075.2:c.336C>T | NP_001293004.1:p.Tyr112= |