Linked Data
ClinVar Variation Id:
990751
ClinVar RCV Id:
RCV001278842
dbSNP Id:
rs1388835954
gnomAD v2:
21-45709660-C-G
gnomAD v4:
21-44289777-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44289777C>G , CM000683.2:g.44289777C>G | GRCh38 |
| NC_000021.8:g.45709660C>G , CM000683.1:g.45709660C>G | GRCh37 |
| NC_000021.7:g.44534088C>G | NCBI36 |
| NG_009556.1:g.8898C>G , LRG_18:g.8898C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.773C>G MANE Select | ENSP00000291582.5:p.Ala258Gly | |
| ENST00000291582.5:c.773C>G | ENSP00000291582.5:p.Ala258Gly | |
| ENST00000527919.5:n.1506C>G | ||
| ENST00000530812.5:n.2523C>G | ||
| NM_000383.3:c.773C>G | NP_000374.1:p.Ala258Gly | |
| XM_011529551.1:c.773C>G | XP_011527853.1:p.Ala258Gly | |
| NM_000383.4:c.773C>G MANE Select | NP_000374.1:p.Ala258Gly |