gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00015396 (EAS)
Genomes Max Group AF
0.00000797 (AFR)
Exomes Max Group AF
0.00015502 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99792324C>T , CM000672.2:g.99792324C>T | GRCh38 |
| NC_000010.10:g.101552081C>T , CM000672.1:g.101552081C>T | GRCh37 |
| NC_000010.9:g.101542071C>T | NCBI36 |
| NG_011798.1:g.14619C>T | |
| NG_011798.2:g.14727C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.298C>T MANE Select | ENSP00000497274.1:p.Arg100Ter | |
| ENST00000647836.1:n.503C>T | ||
| ENST00000648324.1:c.298C>T | ENSP00000497248.1:p.Arg100Ter | |
| ENST00000648689.1:c.298C>T | ENSP00000496972.1:p.Arg100Ter | |
| ENST00000649493.1:c.298C>T | ENSP00000496847.1:p.Arg100Ter | |
| ENST00000649932.1:c.298C>T | ENSP00000498120.1:p.Arg100Ter | |
| ENST00000370434.1:c.298C>T | ENSP00000359463.1:p.Arg100Ter | |
| ENST00000370449.8:c.298C>T | ENSP00000359478.4:p.Arg100Ter | |
| ENST00000496621.1:n.36C>T | ||
| NM_000392.4:c.298C>T | NP_000383.1:p.Arg100Ter | |
| XM_006717631.2:c.298C>T | XP_006717694.1:p.Arg100Ter | |
| XM_011539291.1:c.298C>T | XP_011537593.1:p.Arg100Ter | |
| XR_945604.1:n.487C>T | ||
| XR_945605.1:n.489C>T | ||
| NM_000392.5:c.298C>T MANE Select | NP_000383.2:p.Arg100Ter | |
| XM_006717631.4:c.298C>T | XP_006717694.1:p.Arg100Ter | |
| XM_011539291.3:c.298C>T | XP_011537593.1:p.Arg100Ter | |
| XM_017015675.2:c.298C>T | XP_016871164.1:p.Arg100Ter | |
| XR_945604.3:n.541C>T | ||
| XR_945605.3:n.541C>T |