Revel Score:
ENST00000438926
0.480
ENST00000262502
0.480
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00069218 (EAS)
Exomes Max Group AF
0.0007818 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56879108A>C , CM000678.2:g.56879108A>C | GRCh38 |
| NC_000016.9:g.56913020A>C , CM000678.1:g.56913020A>C | GRCh37 |
| NC_000016.8:g.55470521A>C | NCBI36 |
| NG_009386.1:g.18902A>C | |
| NG_009386.2:g.18902A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563236.6:c.1216A>C MANE Select | ENSP00000456149.2:p.Asn406His | |
| ENST00000262502.5:c.1213A>C | ENSP00000262502.5:p.Asn405His | |
| ENST00000438926.6:c.1216A>C | ENSP00000402152.2:p.Asn406His | |
| ENST00000563236.5:c.1216A>C | ENSP00000456149.1:p.Asn406His | |
| ENST00000566786.5:c.1213A>C | ENSP00000457552.1:p.Asn405His | |
| NM_000339.2:c.1216A>C | NP_000330.2:p.Asn406His | |
| NM_001126107.1:c.1213A>C | NP_001119579.1:p.Asn405His | |
| NM_001126108.1:c.1216A>C | NP_001119580.1:p.Asn406His | |
| XM_005256119.1:c.1213A>C | XP_005256176.1:p.Asn405His | |
| XM_005256119.2:c.1213A>C | XP_005256176.1:p.Asn405His | |
| NM_000339.3:c.1216A>C | NP_000330.3:p.Asn406His | |
| NM_001126107.2:c.1213A>C | NP_001119579.2:p.Asn405His | |
| NM_001126108.2:c.1216A>C MANE Select | NP_001119580.2:p.Asn406His |