COSMIC:
COSM3733888 (not active)
Revel Score:
ENST00000215855 (MANE Select)
0.206
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.91479901 (EAS)
Genomes Max Group AF
0.91140761 (EAS)
Exomes Max Group AF
0.91288559 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.25205229C>G , CM000684.2:g.25205229C>G | GRCh38 |
| NC_000022.10:g.25601196C>G , CM000684.1:g.25601196C>G | GRCh37 |
| NC_000022.9:g.23931196C>G | NCBI36 |
| NG_009828.1:g.10372C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215855.7:c.337C>G MANE Select | ENSP00000215855.2:p.His113Asp | |
| ENST00000215855.6:c.337C>G | ENSP00000215855.2:p.His113Asp | |
| ENST00000404334.1:c.327+1334C>G | ENSP00000386123.1:n.327+1334C>G | |
| NM_004076.4:c.337C>G | NP_004067.1:p.His113Asp | |
| XM_011529902.1:c.505C>G | XP_011528204.1:p.His169Asp | |
| XM_011529902.3:c.505C>G | XP_011528204.1:p.His169Asp | |
| XM_017028599.2:c.495+1334C>G | XP_016884088.1:n.495+1334C>G | |
| NM_004076.5:c.337C>G MANE Select | NP_004067.1:p.His113Asp |