Revel Score:
ENST00000362061 (MANE Select)
0.949
ENST00000367338
0.949
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00016635 (AMR)
Genomes Max Group AF
0.00013506 (NFE)
Exomes Max Group AF
0.00015445 (AMR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201075498T>G , CM000663.2:g.201075498T>G | GRCh38 |
| NC_000001.10:g.201044626T>G , CM000663.1:g.201044626T>G | GRCh37 |
| NC_000001.9:g.199311249T>G | NCBI36 |
| NG_009816.1:g.42069A>C | |
| NG_009816.2:g.42069A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362061.4:c.1945A>C MANE Select | ENSP00000355192.3:p.Asn649His | |
| ENST00000679417.1:c.*1108A>C | ENSP00000506706.1:n.*1108A>C | |
| ENST00000680059.1:c.1945A>C | ENSP00000504944.1:p.Asn649His | |
| ENST00000681078.1:c.1945A>C | ENSP00000506645.1:p.Asn649His | |
| ENST00000681190.1:c.1945A>C | ENSP00000506428.1:p.Asn649His | |
| ENST00000681874.1:c.1945A>C | ENSP00000505162.1:p.Asn649His | |
| ENST00000362061.3:c.1945A>C | ENSP00000355192.3:p.Asn649His | |
| ENST00000367338.7:c.1945A>C | ENSP00000356307.3:p.Asn649His | |
| NM_000069.2:c.1945A>C | NP_000060.2:p.Asn649His | |
| XM_005245478.2:c.1945A>C | XP_005245535.1:p.Asn649His | |
| XM_005245478.3:c.1945A>C | XP_005245535.1:p.Asn649His | |
| NM_000069.3:c.1945A>C MANE Select | NP_000060.2:p.Asn649His |