Linked Data
ClinVar Variation Id:
340004
ClinVar RCV Id:
RCV000348012
dbSNP Id:
rs886057085
gnomAD v4:
21-41740637-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.41740637G>A , CM000683.2:g.41740637G>A | GRCh38 |
| NC_000021.8:g.43160797G>A , CM000683.1:g.43160797G>A | GRCh37 |
| NC_000021.7:g.42033866G>A | NCBI36 |
| NG_032113.1:g.31453C>T | |
| NG_032113.2:g.31453C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000332512.8:c.*201C>T MANE Select | ENSP00000332454.3:n.*201C>T | |
| ENST00000332512.7:c.*201C>T | ENSP00000332454.3:n.*201C>T | |
| ENST00000352483.3:c.*201C>T | ENSP00000330161.2:n.*201C>T | |
| NM_020639.2:c.*201C>T | NP_065690.2:n.*201C>T | |
| NM_020639.3:c.*201C>T MANE Select | NP_065690.2:n.*201C>T |