Linked Data
ClinVar Variation Id:
8014
ClinVar RCV Id:
RCV000008478
dbSNP Id:
rs28936691
gnomAD v4:
16-2278016-T-G
PubMed:
PMID:15044640
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2278016T>G , CM000678.2:g.2278016T>G | GRCh38 |
| NC_000016.9:g.2328017T>G , CM000678.1:g.2328017T>G | GRCh37 |
| NC_000016.8:g.2268018T>G | NCBI36 |
| NG_011790.1:g.67731A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301732.10:c.4772A>C MANE Select | ENSP00000301732.5:p.Gln1591Pro | |
| ENST00000301732.9:c.4772A>C | ENSP00000301732.5:p.Gln1591Pro | |
| ENST00000382381.7:c.4598A>C | ENSP00000371818.3:p.Gln1533Pro | |
| NM_001089.2:c.4772A>C | NP_001080.2:p.Gln1591Pro | |
| NM_001089.3:c.4772A>C MANE Select | NP_001080.2:p.Gln1591Pro |