Linked Data
ClinVar Variation Id:
328761
dbSNP Id:
rs12150889
ExAC:
19:33355055 A / G
gnomAD v2:
19-33355055-A-G
gnomAD v3:
19-32864149-A-G
gnomAD v4:
19-32864149-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.32864149A>G , CM000681.2:g.32864149A>G | GRCh38 |
| NC_000019.9:g.33355055A>G , CM000681.1:g.33355055A>G | GRCh37 |
| NC_000019.8:g.38046895A>G | NCBI36 |
| NG_008258.1:g.10629T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000023064.9:c.425T>C MANE Select | ENSP00000023064.3:p.Val142Ala | |
| ENST00000023064.8:c.425T>C | ENSP00000023064.3:p.Val142Ala | |
| ENST00000587772.1:c.425T>C | ENSP00000468439.1:p.Val142Ala | |
| ENST00000589659.1:n.370T>C | ||
| ENST00000590341.5:c.425T>C | ENSP00000464822.1:p.Val142Ala | |
| ENST00000590465.5:c.*157T>C | ENSP00000468076.1:n.*157T>C | |
| ENST00000592232.5:c.*157T>C | ENSP00000465563.1:n.*157T>C | |
| NM_001126335.1:c.425T>C | NP_001119807.1:p.Val142Ala | |
| NM_001243036.1:c.425T>C | NP_001229965.1:p.Val142Ala | |
| NM_014270.4:c.425T>C | NP_055085.1:p.Val142Ala | |
| XM_006722992.1:c.-31T>C | XP_006723055.1:n.-31T>C | |
| XM_011526402.1:c.425T>C | XP_011524704.1:p.Val142Ala | |
| XM_011526402.3:c.425T>C | XP_011524704.1:p.Val142Ala | |
| XM_017026230.1:c.161T>C | XP_016881719.1:p.Val54Ala | |
| XM_024451334.1:c.-618T>C | XP_024307102.1:n.-618T>C | |
| NM_014270.5:c.425T>C MANE Select | NP_055085.1:p.Val142Ala | |
| NM_001126335.2:c.425T>C | NP_001119807.1:p.Val142Ala | |
| NM_001243036.2:c.425T>C | NP_001229965.1:p.Val142Ala |