Linked Data
ClinVar Variation Id:
161510
ClinVar RCV Id:
RCV000149044
dbSNP Id:
rs193920904
gnomAD v2:
16-2347507-C-T
gnomAD v4:
16-2297506-C-T
COSMIC:
COSM1180150
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2297506C>T , CM000678.2:g.2297506C>T | GRCh38 |
| NC_000016.9:g.2347507C>T , CM000678.1:g.2347507C>T | GRCh37 |
| NC_000016.8:g.2287508C>T | NCBI36 |
| NG_011790.1:g.48241G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.2086G>A MANE Select | ENSP00000301732.5:p.Asp696Asn | |
| ENST00000301732.9:c.2086G>A | ENSP00000301732.5:p.Asp696Asn | |
| ENST00000382381.7:c.1912G>A | ENSP00000371818.3:p.Asp638Asn | |
| ENST00000563623.5:n.2649G>A | ||
| NM_001089.2:c.2086G>A | NP_001080.2:p.Asp696Asn | |
| NM_001089.3:c.2086G>A MANE Select | NP_001080.2:p.Asp696Asn |