ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00314741 (NFE)
Genomes Max Group AF
0.00286989 (NFE)
Exomes Max Group AF
0.00314576 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.10672695G>A , CM000680.2:g.10672695G>A | GRCh38 |
| NC_000018.9:g.10672692G>A , CM000680.1:g.10672692G>A | GRCh37 |
| NC_000018.8:g.10662692G>A | NCBI36 |
| NG_034005.1:g.481068C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383408.7:c.*1442C>T | ENSP00000372900.4:n.*1442C>T | |
| ENST00000685517.1:n.3083C>T | ||
| ENST00000691469.1:n.2238C>T | ||
| ENST00000693743.1:c.1536C>T | ENSP00000510331.1:n.1536C>T | |
| ENST00000674853.1:c.8340C>T MANE Select | ENSP00000501957.1:p.Gly2780= | |
| ENST00000302079.10:c.7812C>T | ENSP00000303316.6:p.Gly2604= | |
| ENST00000383408.6:c.7854C>T | ENSP00000372900.3:p.Gly2618= | |
| ENST00000503781.7:c.8001C>T | ENSP00000421377.3:p.Gly2667= | |
| ENST00000538948.5:c.1872C>T | ENSP00000443129.1:p.Gly624= | |
| ENST00000580640.5:c.8076C>T | ENSP00000463094.1:p.Gly2692= | |
| ENST00000581680.1:n.477C>T | ||
| ENST00000582913.5:c.8207C>T | ENSP00000462115.1:n.8207C>T | |
| ENST00000582937.1:c.53C>T | ENSP00000462187.1:p.Ala18Val | |
| NM_022068.3:c.8001C>T | NP_071351.2:p.Gly2667= | |
| XM_011525723.1:c.8133C>T | XP_011524025.1:p.Gly2711= | |
| XM_011525724.1:c.8076C>T | XP_011524026.1:p.Gly2692= | |
| XM_011525725.1:c.8043C>T | XP_011524027.1:p.Gly2681= | |
| XM_011525726.1:c.7950C>T | XP_011524028.1:p.Gly2650= | |
| XM_011525723.3:c.8133C>T | XP_011524025.1:p.Gly2711= | |
| XM_011525724.3:c.8076C>T | XP_011524026.1:p.Gly2692= | |
| XM_011525725.3:c.8043C>T | XP_011524027.1:p.Gly2681= | |
| XM_011525726.3:c.7950C>T | XP_011524028.1:p.Gly2650= | |
| XM_017025918.2:c.8094C>T | XP_016881407.1:p.Gly2698= | |
| NM_001378183.1:c.8340C>T MANE Select | NP_001365112.1:p.Gly2780= | |
| NM_022068.4:c.8001C>T | NP_071351.2:p.Gly2667= |