gnomAD v4:
Joint Max Group AF
0.0000103 (NFE)
Exomes Max Group AF
0.00001093 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148120063C>T , CM000667.2:g.148120063C>T | GRCh38 |
| NC_000005.9:g.147499626C>T , CM000667.1:g.147499626C>T | GRCh37 |
| NC_000005.8:g.147479819C>T | NCBI36 |
| NG_009633.1:g.61092C>T , LRG_110:g.61092C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256084.8:c.2368C>T MANE Select | ENSP00000256084.7:p.Arg790Ter | |
| ENST00000256084.7:c.2368C>T | ENSP00000256084.7:p.Arg790Ter | |
| ENST00000359874.7:c.2368C>T | ENSP00000352936.3:p.Arg790Ter | |
| ENST00000398454.5:c.2368C>T | ENSP00000381472.1:p.Arg790Ter | |
| ENST00000508733.5:c.2311C>T | ENSP00000421519.1:p.Arg771Ter | |
| NM_001127698.1:c.2368C>T | NP_001121170.1:p.Arg790Ter | |
| NM_001127699.1:c.2368C>T | NP_001121171.1:p.Arg790Ter | |
| NM_006846.3:c.2368C>T , LRG_110t1:c.2368C>T | NP_006837.2:p.Arg790Ter | |
| XM_011537550.1:c.2311C>T | XP_011535852.1:p.Arg771Ter | |
| XM_011537551.1:c.2284C>T | XP_011535853.1:p.Arg762Ter | |
| XM_011537551.2:c.2284C>T | XP_011535853.1:p.Arg762Ter | |
| NM_001127698.2:c.2368C>T | NP_001121170.1:p.Arg790Ter | |
| NM_001127699.2:c.2368C>T | NP_001121171.1:p.Arg790Ter | |
| NM_006846.4:c.2368C>T MANE Select | NP_006837.2:p.Arg790Ter |