Linked Data
ClinVar Variation Id:
1747939
ClinVar RCV Id:
RCV002351629
dbSNP Id:
rs1447729350
gnomAD v2:
21-33032136-C-A
gnomAD v4:
21-31659823-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31659823C>A , CM000683.2:g.31659823C>A | GRCh38 |
| NC_000021.8:g.33032136C>A , CM000683.1:g.33032136C>A | GRCh37 |
| NC_000021.7:g.31954007C>A | NCBI36 |
| NG_008689.1:g.5202C>A , LRG_652:g.5202C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270142.11:c.54C>A MANE Select | ENSP00000270142.7:p.Ile18= | |
| ENST00000270142.10:c.54C>A | ENSP00000270142.6:p.Ile18= | |
| ENST00000389995.4:c.15+39C>A | ENSP00000374645.4:n.15+39C>A | |
| ENST00000470944.1:n.115C>A | ||
| ENST00000476106.5:n.131C>A | ||
| NM_000454.4:c.54C>A , LRG_652t1:c.54C>A | NP_000445.1:p.Ile18= | |
| NM_000454.5:c.54C>A MANE Select | NP_000445.1:p.Ile18= |