Linked Data
ClinVar Variation Id:
468253
ClinVar RCV Id:
RCV000529591
dbSNP Id:
rs11556620
gnomAD v4:
21-31667278-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31667278A>G , CM000683.2:g.31667278A>G | GRCh38 |
| NC_000021.8:g.33039591A>G , CM000683.1:g.33039591A>G | GRCh37 |
| NC_000021.7:g.31961462A>G | NCBI36 |
| NG_008689.1:g.12657A>G , LRG_652:g.12657A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270142.11:c.260A>G MANE Select | ENSP00000270142.7:p.Asn87Ser | |
| ENST00000270142.10:c.260A>G | ENSP00000270142.6:p.Asn87Ser | |
| ENST00000389995.4:c.203A>G | ENSP00000374645.4:p.Asn68Ser | |
| ENST00000470944.1:n.1188A>G | ||
| ENST00000476106.5:n.523A>G | ||
| NM_000454.4:c.260A>G , LRG_652t1:c.260A>G | NP_000445.1:p.Asn87Ser | |
| NM_000454.5:c.260A>G MANE Select | NP_000445.1:p.Asn87Ser |