Linked Data
ClinVar Variation Id:
1368324
ClinVar RCV Id:
RCV001894615
dbSNP Id:
rs1049463156
gnomAD v2:
1-151372086-G-C
gnomAD v3:
1-151399610-G-C
gnomAD v4:
1-151399610-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.151399610G>C , CM000663.2:g.151399610G>C | GRCh38 |
| NC_000001.10:g.151372086G>C , CM000663.1:g.151372086G>C | GRCh37 |
| NC_000001.9:g.149638710G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290541.7:c.23G>C MANE Select | ENSP00000290541.6:p.Arg8Pro | |
| ENST00000290541.6:c.23G>C | ENSP00000290541.6:p.Arg8Pro | |
| ENST00000476467.1:n.24G>C | ||
| ENST00000493673.1:n.21G>C | ||
| ENST00000495288.5:n.51G>C | ||
| ENST00000495805.5:n.32G>C | ||
| NM_002796.2:c.23G>C | NP_002787.2:p.Arg8Pro | |
| NM_002796.3:c.23G>C MANE Select | NP_002787.2:p.Arg8Pro |