Linked Data
ClinVar Variation Id:
375749
ClinVar RCV Id:
RCV000417217
dbSNP Id:
rs63751269
gnomAD v4:
16-173694-A-G
PubMed:
PMID:20301608
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173694A>G , CM000678.2:g.173694A>G | GRCh38 |
| NC_000016.9:g.223693A>G , CM000678.1:g.223693A>G | GRCh37 |
| NC_000016.8:g.163693A>G | NCBI36 |
| NG_000006.1:g.34557A>G | |
| NG_059186.1:g.2044A>G | |
| NG_059271.1:g.5848A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251595.11:c.*94A>G MANE Select | ENSP00000251595.6:n.*94A>G | |
| ENST00000251595.10:c.*94A>G | ENSP00000251595.6:n.*94A>G | |
| ENST00000397806.1:c.*94A>G | ENSP00000380908.1:n.*94A>G | |
| NM_000517.4:c.*94A>G | NP_000508.1:n.*94A>G | |
| NM_000517.6:c.*94A>G MANE Select | NP_000508.1:n.*94A>G |