Linked Data
ClinVar Variation Id:
991266
ClinVar RCV Id:
RCV001279450
dbSNP Id:
rs541991367
gnomAD v2:
8-19818506-G-A
gnomAD v3:
8-19960995-G-A
gnomAD v4:
8-19960995-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19960995G>A , CM000670.2:g.19960995G>A | GRCh38 |
| NC_000008.10:g.19818506G>A , CM000670.1:g.19818506G>A | GRCh37 |
| NC_000008.9:g.19862786G>A | NCBI36 |
| NG_008855.1:g.26925G>A | |
| NG_008855.2:g.64279G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.1234G>A MANE Select | ENSP00000497642.1:p.Asp412Asn | |
| ENST00000650478.1:c.174G>A | ENSP00000497560.1:n.174G>A | |
| ENST00000311322.8:c.1234G>A | ENSP00000309757.6:p.Asp412Asn | |
| NM_000237.2:c.1234G>A | NP_000228.1:p.Asp412Asn | |
| NM_000237.3:c.1234G>A MANE Select | NP_000228.1:p.Asp412Asn |