Linked Data
ClinVar Variation Id:
253161
ClinVar RCV Id:
RCV000239490
dbSNP Id:
rs886037854
gnomAD v4:
18-36195283-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.36195283G>C , CM000680.2:g.36195283G>C | GRCh38 |
| NC_000018.9:g.33775246G>C , CM000680.1:g.33775246G>C | GRCh37 |
| NC_000018.8:g.32029244G>C | NCBI36 |
| NG_053177.1:g.13074G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261326.6:c.169G>C MANE Select | ENSP00000261326.4:p.Ala57Pro | |
| ENST00000261326.5:c.169G>C | ENSP00000261326.4:p.Ala57Pro | |
| NM_017947.2:c.169G>C | NP_060417.2:p.Ala57Pro | |
| NM_017947.3:c.169G>C | NP_060417.3:p.Ala57Pro | |
| NM_017947.4:c.169G>C MANE Select | NP_060417.4:p.Ala57Pro |