gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000366 (SAS)
Exomes Max Group AF
0.00000387 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92517968G>A , CM000669.2:g.92517968G>A | GRCh38 |
| NC_000007.13:g.92147282G>A , CM000669.1:g.92147282G>A | GRCh37 |
| NC_000007.12:g.91985218G>A | NCBI36 |
| NG_008341.1:g.15564C>T | |
| NG_008341.2:g.15564C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.547C>T MANE Select | ENSP00000248633.4:p.Arg183Ter | |
| ENST00000248633.8:c.547C>T | ENSP00000248633.4:p.Arg183Ter | |
| ENST00000428214.5:c.547C>T | ENSP00000394413.1:p.Arg183Ter | |
| ENST00000438045.5:c.274-4001C>T | ENSP00000410438.1:n.274-4001C>T | |
| ENST00000484913.5:n.586C>T | ||
| NM_000466.2:c.547C>T | NP_000457.1:p.Arg183Ter | |
| NM_001282677.1:c.547C>T | NP_001269606.1:p.Arg183Ter | |
| NM_001282678.1:c.-78C>T | NP_001269607.1:n.-78C>T | |
| XR_242246.3:n.643C>T | ||
| XR_242246.5:n.594C>T | ||
| NM_000466.3:c.547C>T MANE Select | NP_000457.1:p.Arg183Ter | |
| NM_001282677.2:c.547C>T | NP_001269606.1:p.Arg183Ter | |
| NM_001282678.2:c.-78C>T | NP_001269607.1:n.-78C>T |