Linked Data
ClinVar Variation Id:
2843839
ClinVar RCV Id:
RCV003637852
dbSNP Id:
rs1445602810
gnomAD v2:
21-45712188-G-A
gnomAD v4:
21-44292305-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44292305G>A , CM000683.2:g.44292305G>A | GRCh38 |
| NC_000021.8:g.45712188G>A , CM000683.1:g.45712188G>A | GRCh37 |
| NC_000021.7:g.44536616G>A | NCBI36 |
| NG_009556.1:g.11426G>A , LRG_18:g.11426G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.999G>A MANE Select | ENSP00000291582.5:p.Gly333= | |
| ENST00000291582.5:c.999G>A | ENSP00000291582.5:p.Gly333= | |
| ENST00000337909.5:n.460G>A | ||
| ENST00000397994.8:n.460G>A | ||
| ENST00000527919.5:n.1729G>A | ||
| ENST00000530812.5:n.2746G>A | ||
| NM_000383.3:c.999G>A | NP_000374.1:p.Gly333= | |
| XM_011529551.1:c.996G>A | XP_011527853.1:p.Gly332= | |
| NM_000383.4:c.999G>A MANE Select | NP_000374.1:p.Gly333= |