Linked Data
ClinVar Variation Id:
12491
dbSNP Id:
rs121918724
ExAC:
14:24725217 T / C
gnomAD v2:
14-24725217-T-C
gnomAD v3:
14-24256011-T-C
gnomAD v4:
14-24256011-T-C
PubMed:
PMID:12542526
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24256011T>C , CM000676.2:g.24256011T>C | GRCh38 |
| NC_000014.8:g.24725217T>C , CM000676.1:g.24725217T>C | GRCh37 |
| NC_000014.7:g.23795057T>C | NCBI36 |
| NG_007150.1:g.12156A>G | |
| NG_007150.2:g.12156A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000206765.11:c.1469A>G MANE Select | ENSP00000206765.6:p.Asp490Gly | |
| ENST00000206765.10:c.1469A>G | ENSP00000206765.6:p.Asp490Gly | |
| ENST00000544573.5:c.143A>G | ENSP00000439446.1:p.Asp48Gly | |
| ENST00000559136.1:c.542A>G | ENSP00000453337.1:p.Asp181Gly | |
| NM_000359.2:c.1469A>G | NP_000350.1:p.Asp490Gly | |
| NM_000359.3:c.1469A>G MANE Select | NP_000350.1:p.Asp490Gly |