ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000262 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.36943098C>T , CM000679.2:g.36943098C>T | GRCh38 |
| NC_000017.10:g.35300395C>T , CM000679.1:g.35300395C>T | GRCh37 |
| NC_000017.9:g.32374508C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614239.1:c.1188C>T MANE Select | ENSP00000477829.1:p.His396= | |
| ENST00000621767.1:c.69-144C>T | ||
| NM_005568.4:c.1188C>T | NP_005559.2:p.His396= | |
| NM_005568.5:c.1188C>T MANE Select | NP_005559.2:p.His396= |