MyVariant.info:
GRCh37
chr4:g.187205274C>A
gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186284120C>A , CM000666.2:g.186284120C>A | GRCh38 |
| NC_000004.11:g.187205274C>A , CM000666.1:g.187205274C>A | GRCh37 |
| NC_000004.10:g.187442268C>A | NCBI36 |
| NG_008051.1:g.23157C>A , LRG_583:g.23157C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.1164C>A MANE Select | ENSP00000384957.2:p.Ile388= | |
| ENST00000264692.8:c.1002C>A | ENSP00000264692.5:p.Ile334= | |
| ENST00000403665.6:c.1164C>A | ENSP00000384957.2:p.Ile388= | |
| NM_000128.3:c.1164C>A , LRG_583t1:c.1164C>A | NP_000119.1:p.Ile388= | |
| XM_005262821.2:c.1167C>A | XP_005262878.1:p.Ile389= | |
| XM_005262822.2:c.1167C>A | XP_005262879.1:p.Ile389= | |
| XM_005262823.2:c.897C>A | XP_005262880.1:p.Ile299= | |
| XM_005262824.1:c.1167C>A | XP_005262881.1:p.Ile389= | |
| XM_006714137.1:c.1119C>A | XP_006714200.1:p.Ile373= | |
| XR_938706.1:n.1572C>A | ||
| XR_938707.1:n.1572C>A | ||
| XM_005262821.4:c.1167C>A | XP_005262878.1:p.Ile389= | |
| XM_005262822.4:c.1167C>A | XP_005262879.1:p.Ile389= | |
| XM_005262823.4:c.897C>A | XP_005262880.1:p.Ile299= | |
| XM_006714137.3:c.1119C>A | XP_006714200.1:p.Ile373= | |
| XM_017007884.2:c.*2136C>A | XP_016863373.1:n.*2136C>A | |
| XM_017007885.2:c.*32C>A | XP_016863374.1:n.*32C>A | |
| XR_001741172.2:n.1638C>A | ||
| NM_000128.4:c.1164C>A MANE Select | NP_000119.1:p.Ile388= |