gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001429 (SAS)
Exomes Max Group AF
0.00001585 (SAS)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92499808G>A , CM000669.2:g.92499808G>A | GRCh38 |
| NC_000007.13:g.92129122G>A , CM000669.1:g.92129122G>A | GRCh37 |
| NC_000007.12:g.91967058G>A | NCBI36 |
| NG_008341.1:g.33724C>T | |
| NG_008341.2:g.33724C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.2614C>T MANE Select | ENSP00000248633.4:p.Arg872Ter | |
| ENST00000248633.8:c.2614C>T | ENSP00000248633.4:p.Arg872Ter | |
| ENST00000428214.5:c.2443C>T | ENSP00000394413.1:p.Arg815Ter | |
| ENST00000438045.5:c.1648C>T | ENSP00000410438.1:p.Arg550Ter | |
| ENST00000484913.5:n.2653C>T | ||
| ENST00000496420.5:n.2506C>T | ||
| NM_000466.2:c.2614C>T | NP_000457.1:p.Arg872Ter | |
| NM_001282677.1:c.2443C>T | NP_001269606.1:p.Arg815Ter | |
| NM_001282678.1:c.1990C>T | NP_001269607.1:p.Arg664Ter | |
| XM_005250433.3:c.865C>T | XP_005250490.1:p.Arg289Ter | |
| XR_242246.3:n.2710C>T | ||
| XM_017012319.2:c.865C>T | XP_016867808.1:p.Arg289Ter | |
| XR_001744808.2:n.1641C>T | ||
| XR_242246.5:n.2661C>T | ||
| NM_000466.3:c.2614C>T MANE Select | NP_000457.1:p.Arg872Ter | |
| NM_001282677.2:c.2443C>T | NP_001269606.1:p.Arg815Ter | |
| NM_001282678.2:c.1990C>T | NP_001269607.1:p.Arg664Ter |