Linked Data
ClinVar Variation Id:
2897923
ClinVar RCV Id:
RCV003726141
dbSNP Id:
rs1820239811
gnomAD v4:
9-21334838-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.21334838C>T , CM000671.2:g.21334838C>T | GRCh38 |
| NC_000009.11:g.21334837C>T , CM000671.1:g.21334837C>T | GRCh37 |
| NC_000009.10:g.21324837C>T | NCBI36 |
| NG_051240.1:g.5595G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359039.5:c.22G>A MANE Select | ENSP00000351933.4:p.Gly8Ser | |
| ENST00000359039.4:c.22G>A | ENSP00000351933.4:p.Gly8Ser | |
| NM_018847.2:c.22G>A | NP_061335.1:p.Gly8Ser | |
| NM_018847.3:c.22G>A | NP_061335.1:p.Gly8Ser | |
| XR_001746634.1:n.472-1783C>T | ||
| NM_018847.4:c.22G>A MANE Select | NP_061335.1:p.Gly8Ser |