gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00042922 (MID)
Genomes Max Group AF
0.00035398 (NFE)
Exomes Max Group AF
0.00045328 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.138951216G>A , CM000667.2:g.138951216G>A | GRCh38 |
| NC_000005.9:g.138286905G>A , CM000667.1:g.138286905G>A | GRCh37 |
| NC_000005.8:g.138314804G>A | NCBI36 |
| NG_008112.1:g.252161C>T | |
| NG_008112.2:g.252161C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394817.7:c.984C>T MANE Select | ENSP00000378294.2:p.Leu328= | |
| ENST00000265195.9:c.984C>T | ENSP00000265195.5:p.Leu328= | |
| ENST00000394817.6:c.984C>T | ENSP00000378294.2:p.Leu328= | |
| ENST00000509534.5:c.1005C>T | ENSP00000426858.1:p.Leu335= | |
| ENST00000515008.1:n.319C>T | ||
| NM_001037633.1:c.984C>T | NP_001032722.1:p.Leu328= | |
| NM_022464.4:c.984C>T | NP_071909.1:p.Leu328= | |
| XM_011543570.1:c.1014C>T | XP_011541872.1:p.Leu338= | |
| XM_011543570.2:c.1014C>T | XP_011541872.1:p.Leu338= | |
| XM_024446164.1:c.984C>T | XP_024301932.1:p.Leu328= | |
| NM_022464.5:c.984C>T MANE Select | NP_071909.1:p.Leu328= | |
| NM_001037633.2:c.984C>T | NP_001032722.1:p.Leu328= |