Linked Data
ClinVar Variation Id:
1378272
ClinVar RCV Id:
RCV001890125
dbSNP Id:
rs1483652105
gnomAD v4:
1-10324873-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10324873C>A , CM000663.2:g.10324873C>A | GRCh38 |
| NC_000001.10:g.10384931C>A , CM000663.1:g.10384931C>A | GRCh37 |
| NC_000001.9:g.10307518C>A | NCBI36 |
| NG_008069.1:g.119168C>A , LRG_252:g.119168C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696502.1:c.2515C>A | ENSP00000512668.1:p.His839Asn | |
| ENST00000696503.1:c.2578C>A | ENSP00000512669.1:p.His860Asn | |
| ENST00000696504.1:c.2578C>A | ENSP00000512670.1:p.His860Asn | |
| ENST00000676179.1:c.2653C>A MANE Select | ENSP00000502065.1:p.His885Asn | |
| ENST00000263934.10:c.2515C>A | ENSP00000263934.6:p.His839Asn | |
| ENST00000377081.5:c.2653C>A | ENSP00000366284.1:p.His885Asn | |
| ENST00000377086.5:c.2653C>A | ENSP00000366290.1:p.His885Asn | |
| ENST00000620295.2:c.2611C>A | ENSP00000478500.1:p.His871Asn | |
| ENST00000622724.3:c.2575C>A | ENSP00000480063.1:p.His859Asn | |
| NM_015074.3:c.2515C>A , LRG_252t1:c.2515C>A | NP_055889.2:p.His839Asn | |
| NM_001365951.1:c.2653C>A | NP_001352880.1:p.His885Asn | |
| NM_001365952.1:c.2653C>A | NP_001352881.1:p.His885Asn | |
| NM_001365951.3:c.2653C>A MANE Select | NP_001352880.1:p.His885Asn |