gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002074 (NFE)
Genomes Max Group AF
0.00002848 (NFE)
Exomes Max Group AF
0.0000183 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1004286C>T , CM000666.2:g.1004286C>T | GRCh38 |
| NC_000004.11:g.998074C>T , CM000666.1:g.998074C>T | GRCh37 |
| NC_000004.10:g.988074C>T | NCBI36 |
| NG_008103.1:g.22290C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.1855C>T | ENSP00000247933.4:p.Arg619Ter | |
| ENST00000514224.2:c.1855C>T MANE Select | ENSP00000425081.2:p.Arg619Ter | |
| ENST00000652070.1:n.1911C>T | ||
| ENST00000247933.8:c.1855C>T | ENSP00000247933.4:p.Arg619Ter | |
| ENST00000514224.1:c.1459C>T | ENSP00000425081.1:p.Arg487Ter | |
| ENST00000514698.5:n.1966C>T | ||
| NM_000203.4:c.1855C>T | NP_000194.2:p.Arg619Ter | |
| NR_110313.1:n.1947C>T | ||
| XM_006713882.2:c.1459C>T | XP_006713945.1:p.Arg487Ter | |
| XM_011513459.1:c.1921C>T | XP_011511761.1:p.Arg641Ter | |
| XM_011513460.1:c.1714C>T | XP_011511762.1:p.Arg572Ter | |
| XM_011513461.1:c.1648C>T | XP_011511763.1:p.Arg550Ter | |
| XM_011513462.1:c.1567C>T | XP_011511764.1:p.Arg523Ter | |
| XM_011513463.1:c.1567C>T | XP_011511765.1:p.Arg523Ter | |
| XR_924947.1:n.2115C>T | ||
| NM_000203.5:c.1855C>T MANE Select | NP_000194.2:p.Arg619Ter | |
| NM_001363576.1:c.1459C>T | NP_001350505.1:p.Arg487Ter | |
| XM_011513461.2:c.1648C>T | XP_011511763.1:p.Arg550Ter | |
| XM_017008163.1:c.895C>T | XP_016863652.1:p.Arg299Ter |