gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00922444 (NFE)
Genomes Max Group AF
0.00944807 (NFE)
Exomes Max Group AF
0.00904886 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88814203G>A , CM000678.2:g.88814203G>A | GRCh38 |
| NC_000016.9:g.88880611G>A , CM000678.1:g.88880611G>A | GRCh37 |
| NC_000016.8:g.87408112G>A | NCBI36 |
| NG_008013.1:g.2732C>T | |
| NG_008667.1:g.47764C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268695.10:c.*236C>T MANE Select | ENSP00000268695.5:n.*236C>T | |
| ENST00000268695.9:c.*236C>T | ENSP00000268695.5:n.*236C>T | |
| ENST00000562593.5:n.5214C>T | ||
| ENST00000567525.5:c.1486C>T | ENSP00000454484.1:n.1486C>T | |
| NM_000512.4:c.*236C>T | NP_000503.1:n.*236C>T | |
| XM_005256302.1:c.*236C>T | XP_005256359.1:n.*236C>T | |
| NM_001323543.1:c.*236C>T | NP_001310472.1:n.*236C>T | |
| NM_001323544.1:c.*236C>T | NP_001310473.1:n.*236C>T | |
| XM_005256301.3:c.*2969C>T | XP_005256358.1:n.*2969C>T | |
| XM_011522982.2:c.*2969C>T | XP_011521284.1:n.*2969C>T | |
| XM_017023112.2:c.*3227C>T | XP_016878601.1:n.*3227C>T | |
| XM_017023113.1:c.*2969C>T | XP_016878602.1:n.*2969C>T | |
| NM_000512.5:c.*236C>T MANE Select | NP_000503.1:n.*236C>T | |
| NM_001323543.2:c.*236C>T | NP_001310472.1:n.*236C>T | |
| NM_001323544.2:c.*236C>T | NP_001310473.1:n.*236C>T |