Linked Data
ClinVar Variation Id:
522906
ClinVar RCV Id:
RCV000626100
dbSNP Id:
rs1553153243
COSMIC:
COSM3492064
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68440940C>T , CM000663.2:g.68440940C>T | GRCh38 |
| NC_000001.10:g.68906623C>T , CM000663.1:g.68906623C>T | GRCh37 |
| NC_000001.9:g.68679211C>T | NCBI36 |
| NG_008472.1:g.14020G>A | |
| NG_008472.2:g.14020G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.556G>A MANE Select | ENSP00000262340.5:p.Asp186Asn | |
| ENST00000262340.5:c.556G>A | ENSP00000262340.5:p.Asp186Asn | |
| NM_000329.2:c.556G>A | NP_000320.1:p.Asp186Asn | |
| XM_017002027.1:c.280G>A | XP_016857516.1:p.Asp94Asn | |
| NM_000329.3:c.556G>A MANE Select | NP_000320.1:p.Asp186Asn |