Linked Data
ClinVar Variation Id:
304563
ClinVar RCV Id:
RCV000342075
dbSNP Id:
rs10458911
gnomAD v2:
11-44117102-T-C
gnomAD v3:
11-44095552-T-C
gnomAD v4:
11-44095552-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.44095552T>C , CM000673.2:g.44095552T>C | GRCh38 |
| NC_000011.9:g.44117102T>C , CM000673.1:g.44117102T>C | GRCh37 |
| NC_000011.8:g.44073678T>C | NCBI36 |
| NG_007560.1:g.5004T>C , LRG_494:g.5004T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000533608.5:c.-331T>C | ENSP00000431173.1:n.-331T>C | |
| NM_001178083.1:c.-331T>C | NP_001171554.1:n.-331T>C | |
| NM_207122.1:c.-331T>C , LRG_494t2:c.-331T>C | NP_997005.1:n.-331T>C |