gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001952 (SAS)
Exomes Max Group AF
0.0000158 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100196413G>A , CM000663.2:g.100196413G>A | GRCh38 |
| NC_000001.10:g.100661969G>A , CM000663.1:g.100661969G>A | GRCh37 |
| NC_000001.9:g.100434557G>A | NCBI36 |
| NG_011852.2:g.58441C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681617.1:c.1417C>T | ENSP00000505544.1:p.Arg473Ter | |
| ENST00000681780.1:c.748C>T | ENSP00000505780.1:p.Arg250Ter | |
| ENST00000370132.8:c.1291C>T MANE Select | ENSP00000359151.3:p.Arg431Ter | |
| NM_001918.3:c.1291C>T | NP_001909.3:p.Arg431Ter | |
| XM_005270545.2:c.748C>T | XP_005270602.1:p.Arg250Ter | |
| XM_005270546.2:c.748C>T | XP_005270603.1:p.Arg250Ter | |
| XM_005270545.4:c.748C>T | XP_005270602.1:p.Arg250Ter | |
| XM_017000468.2:c.748C>T | XP_016855957.1:p.Arg250Ter | |
| XM_017000469.2:c.748C>T | XP_016855958.1:p.Arg250Ter | |
| NM_001918.4:c.1291C>T | NP_001909.3:p.Arg431Ter | |
| NM_001918.5:c.1291C>T MANE Select | NP_001909.4:p.Arg431Ter | |
| NM_001399969.1:c.748C>T | NP_001386898.1:p.Arg250Ter | |
| NM_001399972.1:c.748C>T | NP_001386901.1:p.Arg250Ter | |
| NR_174363.1:n.1123C>T | ||
| NR_174364.1:n.1464C>T | ||
| NR_174365.1:n.1088C>T | ||
| NR_174366.1:n.1390C>T |