gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002864 (SAS)
Genomes Max Group AF
0.00005842 (NFE)
Exomes Max Group AF
0.00002996 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92501923G>A , CM000669.2:g.92501923G>A | GRCh38 |
| NC_000007.13:g.92131237G>A , CM000669.1:g.92131237G>A | GRCh37 |
| NC_000007.12:g.91969173G>A | NCBI36 |
| NG_008341.1:g.31609C>T | |
| NG_008341.2:g.31609C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.2383C>T MANE Select | ENSP00000248633.4:p.Arg795Ter | |
| ENST00000248633.8:c.2383C>T | ENSP00000248633.4:p.Arg795Ter | |
| ENST00000428214.5:c.2212C>T | ENSP00000394413.1:p.Arg738Ter | |
| ENST00000438045.5:c.1417C>T | ENSP00000410438.1:p.Arg473Ter | |
| ENST00000484913.5:n.2422C>T | ||
| ENST00000496092.1:n.181C>T | ||
| ENST00000496420.5:n.2059C>T | ||
| NM_000466.2:c.2383C>T | NP_000457.1:p.Arg795Ter | |
| NM_001282677.1:c.2212C>T | NP_001269606.1:p.Arg738Ter | |
| NM_001282678.1:c.1759C>T | NP_001269607.1:p.Arg587Ter | |
| XM_005250433.3:c.634C>T | XP_005250490.1:p.Arg212Ter | |
| XR_242246.3:n.2479C>T | ||
| XM_017012319.2:c.634C>T | XP_016867808.1:p.Arg212Ter | |
| XR_001744808.2:n.1410C>T | ||
| XR_242246.5:n.2430C>T | ||
| NM_000466.3:c.2383C>T MANE Select | NP_000457.1:p.Arg795Ter | |
| NM_001282677.2:c.2212C>T | NP_001269606.1:p.Arg738Ter | |
| NM_001282678.2:c.1759C>T | NP_001269607.1:p.Arg587Ter |