Linked Data
ClinVar Variation Id:
14874
ClinVar RCV Id:
RCV000016002
dbSNP Id:
rs104893635
PubMed:
PMID:17236141
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176094672A>G , CM000664.2:g.176094672A>G | GRCh38 |
| NC_000002.11:g.176959400A>G , CM000664.1:g.176959400A>G | GRCh37 |
| NC_000002.10:g.176667646A>G | NCBI36 |
| NG_008137.1:g.6869A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392539.4:c.974A>G MANE Select | ENSP00000376322.3:p.Gln325Arg | |
| ENST00000392539.3:c.974A>G | ENSP00000376322.3:p.Gln325Arg | |
| NM_000523.3:c.974A>G | NP_000514.2:p.Gln325Arg | |
| XM_011511068.1:c.917A>G | XP_011509370.1:p.Gln306Arg | |
| XM_011511068.2:c.917A>G | XP_011509370.1:p.Gln306Arg | |
| NM_000523.4:c.974A>G MANE Select | NP_000514.2:p.Gln325Arg |