gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000443 (AFR)
Genomes Max Group AF
0.00000801 (AFR)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2169670G>A , CM000673.2:g.2169670G>A | GRCh38 |
| NC_000011.9:g.2190900G>A , CM000673.1:g.2190900G>A | GRCh37 |
| NC_000011.8:g.2147476G>A | NCBI36 |
| NG_008128.1:g.7136C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352909.8:c.292C>T MANE Select | ENSP00000325951.4:p.Arg98Ter | |
| ENST00000324155.8:c.116C>T | ENSP00000325831.3:p.Pro39Leu | |
| ENST00000333684.9:c.292C>T | ENSP00000328814.6:p.Arg98Ter | |
| ENST00000352909.7:c.292C>T | ENSP00000325951.3:p.Arg98Ter | |
| ENST00000381168.7:c.128C>T | ENSP00000370560.3:p.Pro43Leu | |
| ENST00000381175.5:c.373C>T | ENSP00000370567.1:p.Arg125Ter | |
| ENST00000381178.5:c.385C>T | ENSP00000370571.1:p.Arg129Ter | |
| NM_000360.3:c.292C>T | NP_000351.2:p.Arg98Ter | |
| NM_199292.2:c.385C>T | NP_954986.2:p.Arg129Ter | |
| NM_199293.2:c.373C>T | NP_954987.2:p.Arg125Ter | |
| XM_011520335.1:c.304C>T | XP_011518637.1:p.Arg102Ter | |
| XM_011520335.2:c.304C>T | XP_011518637.1:p.Arg102Ter | |
| NM_000360.4:c.292C>T MANE Select | NP_000351.2:p.Arg98Ter | |
| NM_199292.3:c.385C>T | NP_954986.2:p.Arg129Ter | |
| NM_199293.3:c.373C>T | NP_954987.2:p.Arg125Ter |