Linked Data
ClinVar Variation Id:
2661581
ClinVar RCV Id:
RCV003439983
dbSNP Id:
rs1478383793
gnomAD v2:
X-142795303-G-A
gnomAD v3:
X-143712203-G-A
gnomAD v4:
X-143712203-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.143712203G>A , CM000685.2:g.143712203G>A | GRCh38 |
| NC_000023.10:g.142795303G>A , CM000685.1:g.142795303G>A | GRCh37 |
| NC_000023.9:g.142622969G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000598475.2:c.375C>T MANE Select | ENSP00000470584.1:p.Asp125= | |
| ENST00000598475.1:c.375C>T | ENSP00000470584.1:p.Asp125= | |
| NM_001009615.2:c.375C>T | NP_001009615.1:p.Asp125= | |
| NM_001009615.3:c.375C>T MANE Select | NP_001009615.1:p.Asp125= |