gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000443 (AFR)
Genomes Max Group AF
0.00000799 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186284213C>T , CM000666.2:g.186284213C>T | GRCh38 |
| NC_000004.11:g.187205367C>T , CM000666.1:g.187205367C>T | GRCh37 |
| NC_000004.10:g.187442361C>T | NCBI36 |
| NG_008051.1:g.23250C>T , LRG_583:g.23250C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.1257C>T MANE Select | ENSP00000384957.2:p.Ser419= | |
| ENST00000264692.8:c.1095C>T | ENSP00000264692.5:p.Ser365= | |
| ENST00000403665.6:c.1257C>T | ENSP00000384957.2:p.Ser419= | |
| NM_000128.3:c.1257C>T , LRG_583t1:c.1257C>T | NP_000119.1:p.Ser419= | |
| XM_005262821.2:c.1260C>T | XP_005262878.1:p.Ser420= | |
| XM_005262822.2:c.1260C>T | XP_005262879.1:p.Ser420= | |
| XM_005262823.2:c.990C>T | XP_005262880.1:p.Ser330= | |
| XM_005262824.1:c.1260C>T | XP_005262881.1:p.Ser420= | |
| XM_006714137.1:c.1212C>T | XP_006714200.1:p.Ser404= | |
| XR_938706.1:n.1665C>T | ||
| XR_938707.1:n.1665C>T | ||
| XM_005262821.4:c.1260C>T | XP_005262878.1:p.Ser420= | |
| XM_005262822.4:c.1260C>T | XP_005262879.1:p.Ser420= | |
| XM_005262823.4:c.990C>T | XP_005262880.1:p.Ser330= | |
| XM_006714137.3:c.1212C>T | XP_006714200.1:p.Ser404= | |
| XR_001741172.2:n.1731C>T | ||
| NM_000128.4:c.1257C>T MANE Select | NP_000119.1:p.Ser419= |