gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132888250G>T , CM000670.2:g.132888250G>T | GRCh38 |
| NC_000008.10:g.133900495G>T , CM000670.1:g.133900495G>T | GRCh37 |
| NC_000008.9:g.133969677G>T | NCBI36 |
| NG_015832.1:g.26291G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220616.9:c.2443G>T MANE Select | ENSP00000220616.4:p.Gly815Ter | |
| ENST00000220616.8:c.2443G>T | ENSP00000220616.4:p.Gly815Ter | |
| NM_003235.4:c.2443G>T | NP_003226.4:p.Gly815Ter | |
| XM_005251038.3:c.2443G>T | XP_005251095.1:p.Gly815Ter | |
| XM_005251040.3:c.2443G>T | XP_005251097.1:p.Gly815Ter | |
| XM_005251042.3:c.2443G>T | XP_005251099.1:p.Gly815Ter | |
| XM_005251043.3:c.2443G>T | XP_005251100.1:p.Gly815Ter | |
| XM_006716622.2:c.2443G>T | XP_006716685.1:p.Gly815Ter | |
| XM_005251038.4:c.2443G>T | XP_005251095.1:p.Gly815Ter | |
| XM_005251040.4:c.2443G>T | XP_005251097.1:p.Gly815Ter | |
| XM_005251042.4:c.2443G>T | XP_005251099.1:p.Gly815Ter | |
| XM_006716622.3:c.2443G>T | XP_006716685.1:p.Gly815Ter | |
| XM_017013793.1:c.2443G>T | XP_016869282.1:p.Gly815Ter | |
| XM_017013794.1:c.2443G>T | XP_016869283.1:p.Gly815Ter | |
| XM_017013795.1:c.2443G>T | XP_016869284.1:p.Gly815Ter | |
| XM_017013796.1:c.2443G>T | XP_016869285.1:p.Gly815Ter | |
| XM_017013797.1:c.2182G>T | XP_016869286.1:p.Gly728Ter | |
| XM_017013798.1:c.2443G>T | XP_016869287.1:p.Gly815Ter | |
| XM_017013799.1:c.2443G>T | XP_016869288.1:p.Gly815Ter | |
| XM_017013800.1:c.2443G>T | XP_016869289.1:p.Gly815Ter | |
| NM_003235.5:c.2443G>T MANE Select | NP_003226.4:p.Gly815Ter |