gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000443 (AFR)
Genomes Max Group AF
0.000008 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102840416C>T , CM000674.2:g.102840416C>T | GRCh38 |
| NC_000012.11:g.103234194C>T , CM000674.1:g.103234194C>T | GRCh37 |
| NC_000012.10:g.101758324C>T | NCBI36 |
| NG_008690.1:g.82187G>A | |
| NG_008690.2:g.122995G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1299G>A MANE Select | ENSP00000448059.1:p.Leu433= | |
| ENST00000307000.7:c.1284G>A | ENSP00000303500.2:p.Leu428= | |
| ENST00000551114.2:n.961G>A | ||
| ENST00000553106.5:c.1299G>A | ENSP00000448059.1:p.Leu433= | |
| ENST00000635477.1:c.403G>A | ||
| ENST00000635528.1:n.814G>A | ||
| NM_000277.1:c.1299G>A | NP_000268.1:p.Leu433= | |
| XM_011538422.1:c.1242G>A | XP_011536724.1:p.Leu414= | |
| NM_000277.2:c.1299G>A | NP_000268.1:p.Leu433= | |
| NM_001354304.1:c.1299G>A | NP_001341233.1:p.Leu433= | |
| NM_000277.3:c.1299G>A MANE Select | NP_000268.1:p.Leu433= | |
| NM_001354304.2:c.1299G>A | NP_001341233.1:p.Leu433= |