gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001061 (AFR)
Exomes Max Group AF
0.00000989 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186284120C>T , CM000666.2:g.186284120C>T | GRCh38 |
| NC_000004.11:g.187205274C>T , CM000666.1:g.187205274C>T | GRCh37 |
| NC_000004.10:g.187442268C>T | NCBI36 |
| NG_008051.1:g.23157C>T , LRG_583:g.23157C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.1164C>T MANE Select | ENSP00000384957.2:p.Ile388= | |
| ENST00000264692.8:c.1002C>T | ENSP00000264692.5:p.Ile334= | |
| ENST00000403665.6:c.1164C>T | ENSP00000384957.2:p.Ile388= | |
| NM_000128.3:c.1164C>T , LRG_583t1:c.1164C>T | NP_000119.1:p.Ile388= | |
| XM_005262821.2:c.1167C>T | XP_005262878.1:p.Ile389= | |
| XM_005262822.2:c.1167C>T | XP_005262879.1:p.Ile389= | |
| XM_005262823.2:c.897C>T | XP_005262880.1:p.Ile299= | |
| XM_005262824.1:c.1167C>T | XP_005262881.1:p.Ile389= | |
| XM_006714137.1:c.1119C>T | XP_006714200.1:p.Ile373= | |
| XR_938706.1:n.1572C>T | ||
| XR_938707.1:n.1572C>T | ||
| XM_005262821.4:c.1167C>T | XP_005262878.1:p.Ile389= | |
| XM_005262822.4:c.1167C>T | XP_005262879.1:p.Ile389= | |
| XM_005262823.4:c.897C>T | XP_005262880.1:p.Ile299= | |
| XM_006714137.3:c.1119C>T | XP_006714200.1:p.Ile373= | |
| XM_017007884.2:c.*2136C>T | XP_016863373.1:n.*2136C>T | |
| XM_017007885.2:c.*32C>T | XP_016863374.1:n.*32C>T | |
| XR_001741172.2:n.1638C>T | ||
| NM_000128.4:c.1164C>T MANE Select | NP_000119.1:p.Ile388= |