Linked Data
ClinVar Variation Id:
1042903
ClinVar RCV Id:
RCV001346927
dbSNP Id:
rs1215659134
gnomAD v3:
20-10412974-C-T
gnomAD v4:
20-10412974-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10412974C>T , CM000682.2:g.10412974C>T | GRCh38 |
| NC_000020.10:g.10393622C>T , CM000682.1:g.10393622C>T | GRCh37 |
| NC_000020.9:g.10341622C>T | NCBI36 |
| NG_009109.1:g.26245G>A | |
| NG_009109.2:g.26245G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651692.1:c.541G>A | ENSP00000498849.1:p.Ala181Thr | |
| ENST00000652676.1:n.459-274G>A | ||
| ENST00000347364.7:c.541G>A MANE Select | ENSP00000246062.4:p.Ala181Thr | |
| ENST00000399054.6:c.541G>A | ENSP00000382008.2:p.Ala181Thr | |
| NM_018848.3:c.541G>A | NP_061336.1:p.Ala181Thr | |
| NM_170784.2:c.541G>A | NP_740754.1:p.Ala181Thr | |
| NR_072977.1:n.364-4171G>A | ||
| NR_072977.2:n.347-4171G>A | ||
| NM_170784.3:c.541G>A MANE Select | NP_740754.1:p.Ala181Thr |