Linked Data
dbSNP Id:
rs200454724
gnomAD v2:
21-33032133-C-A
gnomAD v3:
21-31659820-C-A
gnomAD v4:
21-31659820-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31659820C>A , CM000683.2:g.31659820C>A | GRCh38 |
| NC_000021.8:g.33032133C>A , CM000683.1:g.33032133C>A | GRCh37 |
| NC_000021.7:g.31954004C>A | NCBI36 |
| NG_008689.1:g.5199C>A , LRG_652:g.5199C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270142.11:c.51C>A MANE Select | ENSP00000270142.7:p.Gly17= | |
| ENST00000270142.10:c.51C>A | ENSP00000270142.6:p.Gly17= | |
| ENST00000389995.4:c.15+36C>A | ENSP00000374645.4:n.15+36C>A | |
| ENST00000470944.1:n.112C>A | ||
| ENST00000476106.5:n.128C>A | ||
| NM_000454.4:c.51C>A , LRG_652t1:c.51C>A | NP_000445.1:p.Gly17= | |
| NM_000454.5:c.51C>A MANE Select | NP_000445.1:p.Gly17= |