Linked Data
ClinVar Variation Id:
35665
ClinVar RCV Id:
RCV000029313
dbSNP Id:
rs193922418
gnomAD v3:
21-44287133-G-A
gnomAD v4:
21-44287133-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44287133G>A , CM000683.2:g.44287133G>A | GRCh38 |
| NC_000021.8:g.45707016G>A , CM000683.1:g.45707016G>A | GRCh37 |
| NC_000021.7:g.44531444G>A | NCBI36 |
| NG_009556.1:g.6254G>A , LRG_18:g.6254G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.463G>A MANE Select | ENSP00000291582.5:p.Gly155Ser | |
| ENST00000291582.5:c.463G>A | ENSP00000291582.5:p.Gly155Ser | |
| ENST00000527919.5:n.624G>A | ||
| ENST00000530812.5:n.632G>A | ||
| NM_000383.3:c.463G>A | NP_000374.1:p.Gly155Ser | |
| XM_011529551.1:c.463G>A | XP_011527853.1:p.Gly155Ser | |
| NM_000383.4:c.463G>A MANE Select | NP_000374.1:p.Gly155Ser |