Linked Data
ClinVar Variation Id:
1502913
ClinVar RCV Id:
RCV002011113
dbSNP Id:
rs200279465
ExAC:
12:5153882 A / G
gnomAD v4:
12-5044716-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5044716A>G , CM000674.2:g.5044716A>G | GRCh38 |
| NC_000012.11:g.5153882A>G , CM000674.1:g.5153882A>G | GRCh37 |
| NC_000012.10:g.5024143A>G | NCBI36 |
| NG_012198.1:g.5798A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.569A>G MANE Select | ENSP00000252321.3:p.Asn190Ser | |
| ENST00000252321.4:c.569A>G | ENSP00000252321.3:p.Asn190Ser | |
| NM_002234.3:c.569A>G | NP_002225.2:p.Asn190Ser | |
| NM_002234.4:c.569A>G MANE Select | NP_002225.2:p.Asn190Ser |