Linked Data
ClinVar Variation Id:
2149177
ClinVar RCV Id:
RCV003081342
dbSNP Id:
rs1219626593
gnomAD v2:
12-12871165-T-C
gnomAD v4:
12-12718231-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12718231T>C , CM000674.2:g.12718231T>C | GRCh38 |
| NC_000012.11:g.12871165T>C , CM000674.1:g.12871165T>C | GRCh37 |
| NC_000012.10:g.12762432T>C | NCBI36 |
| NG_016341.1:g.5864T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614874.2:c.392T>C | ENSP00000507272.1:p.Val131Ala | |
| ENST00000682620.1:n.1631-594T>C | ||
| ENST00000684771.1:n.585-594T>C | ||
| ENST00000228872.9:c.392T>C MANE Select | ENSP00000228872.4:p.Val131Ala | |
| ENST00000228872.8:c.392T>C | ENSP00000228872.4:p.Val131Ala | |
| ENST00000396340.1:c.392T>C | ENSP00000379629.1:p.Val131Ala | |
| ENST00000442489.1:c.193+178T>C | ENSP00000407597.1:n.193+178T>C | |
| ENST00000477087.1:n.155-594T>C | ||
| NM_004064.4:c.392T>C | NP_004055.1:p.Val131Ala | |
| NM_004064.5:c.392T>C MANE Select | NP_004055.1:p.Val131Ala |