Linked Data
ClinVar Variation Id:
897364
dbSNP Id:
rs551220022
gnomAD v2:
20-10385783-G-A
gnomAD v3:
20-10405135-G-A
gnomAD v4:
20-10405135-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10405135G>A , CM000682.2:g.10405135G>A | GRCh38 |
| NC_000020.10:g.10385783G>A , CM000682.1:g.10385783G>A | GRCh37 |
| NC_000020.9:g.10333783G>A | NCBI36 |
| NG_009109.1:g.34084C>T | |
| NG_009109.2:g.34084C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651692.1:c.*112C>T | ENSP00000498849.1:n.*112C>T | |
| ENST00000652676.1:n.1469C>T | ||
| ENST00000347364.7:c.*112C>T MANE Select | ENSP00000246062.4:n.*112C>T | |
| NM_018848.3:c.*112C>T | NP_061336.1:n.*112C>T | |
| NM_170784.2:c.*112C>T | NP_740754.1:n.*112C>T | |
| NR_072977.1:n.1203C>T | ||
| NR_072977.2:n.1186C>T | ||
| NM_170784.3:c.*112C>T MANE Select | NP_740754.1:n.*112C>T |