Revel Score:
ENST00000264563 (MANE Select)
0.085
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.03777801 (SAS)
Genomes Max Group AF
0.03086409 (SAS)
Exomes Max Group AF
0.03796035 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55368304C>T , CM000681.2:g.55368304C>T | GRCh38 |
| NC_000019.9:g.55879672C>T , CM000681.1:g.55879672C>T | GRCh37 |
| NC_000019.8:g.60571484C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264563.7:c.335G>A MANE Select | ENSP00000264563.1:p.Arg112His | |
| ENST00000264563.6:c.335G>A | ENSP00000264563.1:p.Arg112His | |
| ENST00000585513.1:c.335G>A | ENSP00000467355.1:p.Arg112His | |
| ENST00000587093.1:c.98G>A | ENSP00000468663.1:p.Arg33His | |
| ENST00000590625.5:c.98G>A | ENSP00000465705.1:p.Arg33His | |
| NM_000641.3:c.335G>A | NP_000632.1:p.Arg112His | |
| NM_001267718.1:c.98G>A | NP_001254647.1:p.Arg33His | |
| NM_000641.4:c.335G>A MANE Select | NP_000632.1:p.Arg112His | |
| NM_001267718.2:c.98G>A | NP_001254647.1:p.Arg33His |