gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02372718 (AFR)
Genomes Max Group AF
0.02285289 (AFR)
Exomes Max Group AF
0.02395528 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.79513346G>A , CM000668.2:g.79513346G>A | GRCh38 |
| NC_000006.11:g.80223063G>A , CM000668.1:g.80223063G>A | GRCh37 |
| NC_000006.10:g.80279782G>A | NCBI36 |
| NG_016011.1:g.29085C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369846.9:c.586C>T MANE Select | ENSP00000358861.4:p.Leu196= | |
| ENST00000369846.8:c.586C>T | ENSP00000358861.4:p.Leu196= | |
| ENST00000392959.5:c.586C>T | ENSP00000376686.1:p.Leu196= | |
| ENST00000467898.3:c.586C>T | ENSP00000474463.1:p.Leu196= | |
| NM_001122769.2:c.586C>T | NP_001116241.1:p.Leu196= | |
| NM_181714.3:c.586C>T | NP_859065.2:p.Leu196= | |
| XM_005248665.3:c.586C>T | XP_005248722.1:p.Leu196= | |
| XM_011535504.1:c.586C>T | XP_011533806.1:p.Leu196= | |
| XM_005248665.4:c.586C>T | XP_005248722.1:p.Leu196= | |
| NM_001122769.3:c.586C>T MANE Select | NP_001116241.1:p.Leu196= | |
| NM_181714.4:c.586C>T | NP_859065.2:p.Leu196= |