gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00214702 (NFE)
Genomes Max Group AF
0.00193046 (NFE)
Exomes Max Group AF
0.00214531 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.41739420G>A , CM000667.2:g.41739420G>A | GRCh38 |
| NC_000005.9:g.41739522G>A , CM000667.1:g.41739522G>A | GRCh37 |
| NC_000005.8:g.41775279G>A | NCBI36 |
| NG_011823.1:g.136270C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196371.10:c.1491C>T MANE Select | ENSP00000196371.5:p.Asp497= | |
| ENST00000196371.9:c.1491C>T | ENSP00000196371.5:p.Asp497= | |
| ENST00000503374.1:n.302C>T | ||
| ENST00000508557.5:n.376C>T | ||
| ENST00000509987.1:c.933C>T | ENSP00000425348.1:p.Asp311= | |
| ENST00000510634.5:c.300C>T | ENSP00000423144.1:p.Asp100= | |
| ENST00000512084.5:c.300C>T | ENSP00000421143.1:p.Asp100= | |
| NM_000436.3:c.1491C>T | NP_000427.1:p.Asp497= | |
| XR_427658.2:n.1594C>T | ||
| NM_001364299.1:c.1512C>T | NP_001351228.1:p.Asp504= | |
| NM_001364300.1:c.1512C>T | NP_001351229.1:p.Asp504= | |
| NM_001364301.1:c.1485C>T | NP_001351230.1:p.Asp495= | |
| NM_001364302.1:c.1401C>T | NP_001351231.1:p.Asp467= | |
| NM_001364303.1:c.933C>T | NP_001351232.1:p.Asp311= | |
| NR_157114.1:n.1485C>T | ||
| NM_000436.4:c.1491C>T MANE Select | NP_000427.1:p.Asp497= | |
| NM_001364299.2:c.1512C>T | NP_001351228.1:p.Asp504= | |
| NM_001364300.2:c.1512C>T | NP_001351229.1:p.Asp504= | |
| NM_001364301.2:c.1485C>T | NP_001351230.1:p.Asp495= | |
| NM_001364302.2:c.1401C>T | NP_001351231.1:p.Asp467= | |
| NR_157114.2:n.1485C>T | ||
| NM_001364303.2:c.933C>T | NP_001351232.1:p.Asp311= |