ClinGen Classification:
Classification
Uncertain Significance
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000443 (AFR)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
7.2e-7 (NFE)
Revel Score:
ENST00000359596 (MANE Select)
0.813
ENST00000355481
0.813
ENST00000360985
0.813
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38561185A>T , CM000681.2:g.38561185A>T | GRCh38 |
| NC_000019.9:g.39051825A>T , CM000681.1:g.39051825A>T | GRCh37 |
| NC_000019.8:g.43743665A>T | NCBI36 |
| NG_008866.1:g.132486A>T , LRG_766:g.132486A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000688602.1:c.765A>T | ||
| ENST00000689936.1:c.747A>T | ||
| ENST00000359596.8:c.12355A>T MANE Select | ENSP00000352608.2:p.Asn4119Tyr | |
| ENST00000355481.8:c.12340A>T | ENSP00000347667.3:p.Asn4114Tyr | |
| ENST00000359596.7:c.12355A>T | ENSP00000352608.2:p.Asn4119Tyr | |
| ENST00000360985.7:c.12337A>T | ENSP00000354254.4:p.Asn4113Tyr | |
| ENST00000594335.5:c.5724A>T | ||
| NM_000540.2:c.12355A>T , LRG_766t1:c.12355A>T | NP_000531.2:p.Asn4119Tyr | |
| NM_001042723.1:c.12340A>T | NP_001036188.1:p.Asn4114Tyr | |
| XM_006723317.1:c.12337A>T | XP_006723380.1:p.Asn4113Tyr | |
| XM_006723319.1:c.12322A>T | XP_006723382.1:p.Asn4108Tyr | |
| XM_011527204.1:c.12352A>T | XP_011525506.1:p.Asn4118Tyr | |
| XM_011527205.1:c.12355A>T | XP_011525507.1:p.Asn4119Tyr | |
| XM_006723317.2:c.12337A>T | XP_006723380.1:p.Asn4113Tyr | |
| XM_006723319.2:c.12322A>T | XP_006723382.1:p.Asn4108Tyr | |
| XM_011527205.2:c.12355A>T | XP_011525507.1:p.Asn4119Tyr | |
| NM_000540.3:c.12355A>T MANE Select | NP_000531.2:p.Asn4119Tyr | |
| NM_001042723.2:c.12340A>T | NP_001036188.1:p.Asn4114Tyr |