ClinVar RCV:
ClinVar Variation:
COSMIC:
COSM6003528
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000443 (NFE)
Exomes Max Group AF
0.00004701 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15239100G>A , CM000681.2:g.15239100G>A | GRCh38 |
| NC_000019.9:g.15349911G>A , CM000681.1:g.15349911G>A | GRCh37 |
| NC_000019.8:g.15210911G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000679869.1:c.3741C>T MANE Select | ENSP00000506350.1:p.His1247= | |
| ENST00000263377.6:c.3741C>T | ENSP00000263377.1:p.His1247= | |
| NM_058243.2:c.3741C>T | NP_490597.1:p.His1247= | |
| XM_011527854.1:c.3741C>T | XP_011526156.1:p.His1247= | |
| XM_011527854.2:c.3741C>T | XP_011526156.1:p.His1247= | |
| NM_001379291.1:c.3741C>T MANE Select | NP_001366220.1:p.His1247= | |
| NM_058243.3:c.3741C>T | NP_490597.1:p.His1247= |