Revel Score:
ENST00000399402
0.466
ENST00000307363 (MANE Select)
0.466
ENST00000445488
0.466
ENST00000307377
0.466
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002553 (AFR)
Genomes Max Group AF
0.00003257 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33018485T>A , CM000665.2:g.33018485T>A | GRCh38 |
| NC_000003.11:g.33059977T>A , CM000665.1:g.33059977T>A | GRCh37 |
| NC_000003.10:g.33034981T>A | NCBI36 |
| NG_009005.1:g.83718A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307363.10:c.1310A>T MANE Select | ENSP00000306920.4:p.Asn437Ile | |
| ENST00000307363.9:c.1310A>T | ENSP00000306920.4:p.Asn437Ile | |
| ENST00000307377.12:c.917A>T | ENSP00000305920.8:p.Asn306Ile | |
| ENST00000399402.7:c.1220A>T | ENSP00000382333.2:p.Asn407Ile | |
| ENST00000461475.5:n.409A>T | ||
| ENST00000467571.5:n.347A>T | ||
| ENST00000497796.5:n.562A>T | ||
| NM_000404.2:c.1310A>T | NP_000395.2:p.Asn437Ile | |
| NM_000404.3:c.1310A>T | NP_000395.2:p.Asn437Ile | |
| NM_001079811.1:c.1220A>T | NP_001073279.1:p.Asn407Ile | |
| NM_001079811.2:c.1220A>T | NP_001073279.1:p.Asn407Ile | |
| NM_001135602.1:c.917A>T | NP_001129074.1:p.Asn306Ile | |
| NM_001135602.2:c.917A>T | NP_001129074.1:p.Asn306Ile | |
| NM_001317040.1:c.1454A>T | NP_001303969.1:p.Asn485Ile | |
| NM_000404.4:c.1310A>T MANE Select | NP_000395.3:p.Asn437Ile | |
| NM_001079811.3:c.1220A>T | NP_001073279.2:p.Asn407Ile | |
| NM_001135602.3:c.917A>T | NP_001129074.2:p.Asn306Ile | |
| NM_001317040.2:c.1454A>T | NP_001303969.2:p.Asn485Ile | |
| NM_001393580.1:c.1310A>T | NP_001380509.1:p.Asn437Ile |