Linked Data
ClinVar Variation Id:
1963061
ClinVar RCV Id:
RCV002710883
dbSNP Id:
rs2062997380
gnomAD v4:
22-29480504-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29480504G>A , CM000684.2:g.29480504G>A | GRCh38 |
| NC_000022.10:g.29876493G>A , CM000684.1:g.29876493G>A | GRCh37 |
| NC_000022.9:g.28206493G>A | NCBI36 |
| NG_008404.1:g.5313G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310624.7:c.242G>A MANE Select | ENSP00000311997.6:p.Ser81Asn | |
| ENST00000310624.6:c.242G>A | ENSP00000311997.6:p.Ser81Asn | |
| NM_021076.3:c.242G>A | NP_066554.2:p.Ser81Asn | |
| XM_011530200.1:c.242G>A | XP_011528502.1:p.Ser81Asn | |
| XM_011530200.2:c.242G>A | XP_011528502.1:p.Ser81Asn | |
| NM_021076.4:c.242G>A MANE Select | NP_066554.2:p.Ser81Asn |