Linked Data
ClinVar Variation Id:
308049
dbSNP Id:
rs201972673
ExAC:
12:22089534 A / G
gnomAD v2:
12-22089534-A-G
gnomAD v3:
12-21936600-A-G
gnomAD v4:
12-21936600-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21936600A>G , CM000674.2:g.21936600A>G | GRCh38 |
| NC_000012.11:g.22089534A>G , CM000674.1:g.22089534A>G | GRCh37 |
| NC_000012.10:g.21980801A>G | NCBI36 |
| NG_012819.1:g.5095T>C , LRG_377:g.5095T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261201.10:c.75T>C | ENSP00000261201.4:p.Phe25= | |
| ENST00000621589.2:c.75T>C | ENSP00000480233.1:p.Phe25= | |
| ENST00000682068.1:c.75T>C | ENSP00000507226.1:p.Phe25= | |
| ENST00000682646.1:n.331T>C | ||
| ENST00000682789.1:n.326T>C | ||
| ENST00000682879.1:c.75T>C | ENSP00000508210.1:p.Phe25= | |
| ENST00000683105.1:c.75T>C | ENSP00000506801.1:p.Phe25= | |
| ENST00000683676.1:c.75T>C | ENSP00000508167.1:p.Phe25= | |
| ENST00000684084.1:c.75T>C | ENSP00000507859.1:p.Phe25= | |
| ENST00000684435.1:c.75T>C | ENSP00000507779.1:p.Phe25= | |
| ENST00000684543.1:n.420T>C | ||
| ENST00000261200.9:c.75T>C MANE Select | ENSP00000261200.4:p.Phe25= | |
| ENST00000261201.9:c.75T>C | ENSP00000261201.4:p.Phe25= | |
| ENST00000636888.1:c.75T>C | ENSP00000490640.1:p.Phe25= | |
| ENST00000261200.8:c.75T>C | ENSP00000261200.4:p.Phe25= | |
| ENST00000261201.8:c.75T>C | ENSP00000261201.4:p.Phe25= | |
| ENST00000326684.8:c.75T>C | ENSP00000317518.4:p.Phe25= | |
| ENST00000538350.5:c.75T>C | ENSP00000442604.1:p.Phe25= | |
| ENST00000621589.1:c.75T>C | ENSP00000480233.1:p.Phe25= | |
| NM_005691.3:c.75T>C | NP_005682.2:p.Phe25= | |
| NM_020297.3:c.75T>C | NP_064693.2:p.Phe25= | |
| XM_005253284.2:c.75T>C | XP_005253341.1:p.Phe25= | |
| XM_005253286.2:c.75T>C | XP_005253343.1:p.Phe25= | |
| XM_005253287.3:c.75T>C | XP_005253344.1:p.Phe25= | |
| XM_005253288.2:c.75T>C | XP_005253345.1:p.Phe25= | |
| XM_005253289.2:c.75T>C | XP_005253346.1:p.Phe25= | |
| XM_005253290.2:c.75T>C | XP_005253347.1:p.Phe25= | |
| XM_006719025.2:c.75T>C | XP_006719088.1:p.Phe25= | |
| XM_011520545.1:c.75T>C | XP_011518847.1:p.Phe25= | |
| XM_005253284.4:c.75T>C | XP_005253341.1:p.Phe25= | |
| XM_005253286.4:c.75T>C | XP_005253343.1:p.Phe25= | |
| XM_005253287.5:c.75T>C | XP_005253344.1:p.Phe25= | |
| XM_005253288.4:c.75T>C | XP_005253345.1:p.Phe25= | |
| XM_005253289.4:c.75T>C | XP_005253346.1:p.Phe25= | |
| XM_005253290.4:c.75T>C | XP_005253347.1:p.Phe25= | |
| XM_006719025.4:c.75T>C | XP_006719088.1:p.Phe25= | |
| XM_011520545.3:c.75T>C | XP_011518847.1:p.Phe25= | |
| NM_001377273.1:c.75T>C | NP_001364202.1:p.Phe25= | |
| NM_001377274.1:c.-380T>C | NP_001364203.1:n.-380T>C | |
| NM_005691.4:c.75T>C | NP_005682.2:p.Phe25= | |
| NM_020297.4:c.75T>C MANE Select | NP_064693.2:p.Phe25= |