gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0001548 (AFR)
Genomes Max Group AF
0.00016694 (AFR)
Exomes Max Group AF
0.00007713 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201043511G>A , CM000663.2:g.201043511G>A | GRCh38 |
| NC_000001.10:g.201012639G>A , CM000663.1:g.201012639G>A | GRCh37 |
| NC_000001.9:g.199279262G>A | NCBI36 |
| NG_009816.1:g.74056C>T | |
| NG_009816.2:g.74056C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362061.4:c.4818C>T MANE Select | ENSP00000355192.3:p.Gly1606= | |
| ENST00000679417.1:c.*3981C>T | ENSP00000506706.1:n.*3981C>T | |
| ENST00000680051.1:n.1944C>T | ||
| ENST00000680059.1:c.*2336C>T | ENSP00000504944.1:n.*2336C>T | |
| ENST00000681078.1:c.*593C>T | ENSP00000506645.1:n.*593C>T | |
| ENST00000681190.1:c.*1000C>T | ENSP00000506428.1:n.*1000C>T | |
| ENST00000681874.1:c.4758C>T | ENSP00000505162.1:p.Gly1586= | |
| ENST00000362061.3:c.4818C>T | ENSP00000355192.3:p.Gly1606= | |
| ENST00000367338.7:c.4761C>T | ENSP00000356307.3:p.Gly1587= | |
| NM_000069.2:c.4818C>T | NP_000060.2:p.Gly1606= | |
| XM_005245478.2:c.4761C>T | XP_005245535.1:p.Gly1587= | |
| XM_005245478.3:c.4761C>T | XP_005245535.1:p.Gly1587= | |
| NM_000069.3:c.4818C>T MANE Select | NP_000060.2:p.Gly1606= |