Linked Data
ClinVar Variation Id:
1975600
ClinVar RCV Id:
RCV002746670
dbSNP Id:
rs1781301291
gnomAD v3:
6-131808090-G-A
gnomAD v4:
6-131808090-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131808090G>A , CM000668.2:g.131808090G>A | GRCh38 |
| NC_000006.11:g.132129230G>A , CM000668.1:g.132129230G>A | GRCh37 |
| NC_000006.10:g.132170923G>A | NCBI36 |
| NG_008206.1:g.5075G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647893.1:c.55G>A MANE Select | ENSP00000498074.1:p.Ala19Thr | |
| ENST00000360971.6:c.55G>A | ENSP00000354238.2:p.Ala19Thr | |
| ENST00000486853.1:n.75G>A | ||
| ENST00000513998.5:c.55G>A | ENSP00000422424.1:p.Ala19Thr | |
| NM_006208.2:c.55G>A | NP_006199.2:p.Ala19Thr | |
| NM_006208.3:c.55G>A MANE Select | NP_006199.2:p.Ala19Thr |