Revel Score:
ENST00000236959 (MANE Select)
0.714
ENST00000540518
0.714
ENST00000435675
0.714
ENST00000446622
0.741
ENST00000426233
0.741
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.215346912G>T , CM000664.2:g.215346912G>T | GRCh38 |
| NC_000002.11:g.216211635G>T , CM000664.1:g.216211635G>T | GRCh37 |
| NC_000002.10:g.215919880G>T | NCBI36 |
| NG_013002.1:g.39957G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236959.14:c.1474G>T MANE Select | ENSP00000236959.9:p.Asp492Tyr | |
| ENST00000236959.13:c.1474G>T | ENSP00000236959.9:p.Asp492Tyr | |
| ENST00000426233.1:c.479G>T | ||
| ENST00000435675.5:c.1471G>T | ENSP00000415935.1:p.Asp491Tyr | |
| ENST00000443953.5:c.*1571G>T | ENSP00000406792.1:n.*1571G>T | |
| ENST00000446622.5:n.554G>T | ||
| ENST00000467388.1:n.386G>T | ||
| ENST00000479093.5:n.389G>T | ||
| NM_004044.6:c.1474G>T | NP_004035.2:p.Asp492Tyr | |
| XM_017004187.2:c.1474G>T | XP_016859676.1:p.Asp492Tyr | |
| XM_024452919.1:c.1297G>T | XP_024308687.1:p.Asp433Tyr | |
| NM_004044.7:c.1474G>T MANE Select | NP_004035.2:p.Asp492Tyr |