Linked Data
ClinVar Variation Id:
13055
ClinVar RCV Id:
RCV000013930
dbSNP Id:
rs104893797
PubMed:
PMID:10980774
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129528800C>G , CM000665.2:g.129528800C>G | GRCh38 |
| NC_000003.11:g.129247643C>G , CM000665.1:g.129247643C>G | GRCh37 |
| NC_000003.10:g.130730333C>G | NCBI36 |
| NG_009115.1:g.5162C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.67C>G MANE Select | ENSP00000296271.3:p.Pro23Ala | |
| ENST00000296271.3:c.67C>G | ENSP00000296271.3:p.Pro23Ala | |
| NM_000539.3:c.67C>G MANE Select | NP_000530.1:p.Pro23Ala |