Linked Data
ClinVar Variation Id:
235819
ClinVar RCV Id:
RCV000224050
dbSNP Id:
rs765430577
gnomAD v4:
2-232484472-C-T
PubMed:
PMID:23261301
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232484472C>T , CM000664.2:g.232484472C>T | GRCh38 |
| NC_000002.11:g.233349182C>T , CM000664.1:g.233349182C>T | GRCh37 |
| NC_000002.10:g.233057426C>T | NCBI36 |
| NG_034065.1:g.8388G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304546.6:c.1184G>A MANE Select | ENSP00000302051.1:p.Arg395Gln | |
| ENST00000304546.5:c.1184G>A | ENSP00000302051.1:p.Arg395Gln | |
| ENST00000409941.1:c.1184G>A | ENSP00000386333.1:p.Arg395Gln | |
| ENST00000482346.1:n.1495G>A | ||
| NM_001290787.1:c.1184G>A | NP_001277716.1:p.Arg395Gln | |
| NM_004826.3:c.1184G>A | NP_004817.2:p.Arg395Gln | |
| NM_004826.4:c.1184G>A MANE Select | NP_004817.2:p.Arg395Gln | |
| NM_001290787.2:c.1184G>A | NP_001277716.1:p.Arg395Gln |