Linked Data
ClinVar Variation Id:
6991
ClinVar RCV Id:
RCV000007407
dbSNP Id:
rs104894448
PubMed:
PMID:11228641
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.49622220A>G , CM000676.2:g.49622220A>G | GRCh38 |
| NC_000014.8:g.50088938A>G , CM000676.1:g.50088938A>G | GRCh37 |
| NC_000014.7:g.49158688A>G | NCBI36 |
| NG_008920.1:g.6450A>G | |
| NG_033054.1:g.3412T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305386.4:c.952A>G MANE Select | ENSP00000307423.2:p.Asn318Asp | |
| ENST00000305386.3:c.952A>G | ENSP00000307423.2:p.Asn318Asp | |
| NM_002408.3:c.952A>G | NP_002399.1:p.Asn318Asp | |
| NM_002408.4:c.952A>G MANE Select | NP_002399.1:p.Asn318Asp |