gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119299595T>C , CM000673.2:g.119299595T>C | GRCh38 |
| NC_000011.9:g.119170305T>C , CM000673.1:g.119170305T>C | GRCh37 |
| NC_000011.8:g.118675515T>C | NCBI36 |
| NG_016808.1:g.98316T>C , LRG_608:g.98316T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700472.1:c.*1979+8T>C | ENSP00000515005.1:n.*1979+8T>C | |
| ENST00000264033.6:c.2535T>C MANE Select | ENSP00000264033.3:p.Gly845= | |
| ENST00000637974.1:c.2521+8T>C | ENSP00000490763.1:n.2521+8T>C | |
| ENST00000264033.5:c.2535T>C | ENSP00000264033.3:p.Gly845= | |
| ENST00000634301.1:c.262+8T>C | ENSP00000489556.1:n.262+8T>C | |
| ENST00000634586.1:c.2535T>C | ENSP00000489218.1:p.Gly845= | |
| ENST00000634840.1:c.2403T>C | ENSP00000489324.1:p.Gly801= | |
| NM_005188.3:c.2535T>C , LRG_608t1:c.2535T>C | NP_005179.2:p.Gly845= | |
| NM_005188.4:c.2535T>C MANE Select | NP_005179.2:p.Gly845= |