Linked Data
ClinVar Variation Id:
8563
ClinVar RCV Id:
RCV000009094
dbSNP Id:
rs121912565
PubMed:
PMID:12788847
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.148154589T>C , CM000666.2:g.148154589T>C | GRCh38 |
| NC_000004.11:g.149075740T>C , CM000666.1:g.149075740T>C | GRCh37 |
| NC_000004.10:g.149295190T>C | NCBI36 |
| NG_013350.1:g.292933A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358102.8:c.2327A>G MANE Select | ENSP00000350815.3:p.Gln776Arg | |
| ENST00000342437.8:c.2015-34301A>G | ENSP00000343907.4:n.2015-34301A>G | |
| ENST00000344721.8:c.2327A>G | ENSP00000341390.4:p.Gln776Arg | |
| ENST00000358102.7:c.2327A>G | ENSP00000350815.3:p.Gln776Arg | |
| ENST00000503174.1:n.256A>G | ||
| ENST00000503313.1:n.524A>G | ||
| ENST00000511528.1:c.2339A>G | ENSP00000421481.1:p.Gln780Arg | |
| ENST00000512865.5:c.2015-1976A>G | ENSP00000423510.1:n.2015-1976A>G | |
| ENST00000625323.2:c.2339A>G | ENSP00000486719.1:p.Gln780Arg | |
| NM_000901.4:c.2327A>G | NP_000892.2:p.Gln776Arg | |
| NM_001166104.1:c.2015-1976A>G | NP_001159576.1:n.2015-1976A>G | |
| XM_011531975.1:c.2339A>G | XP_011530277.1:p.Gln780Arg | |
| XM_011531976.1:c.2339A>G | XP_011530278.1:p.Gln780Arg | |
| XM_011531977.1:c.2339A>G | XP_011530279.1:p.Gln780Arg | |
| XM_011531978.1:c.2339A>G | XP_011530280.1:p.Gln780Arg | |
| NM_001354819.1:c.2015-1976A>G | NP_001341748.1:n.2015-1976A>G | |
| NR_148974.1:n.2378-34301A>G | ||
| XM_011531978.2:c.2339A>G | XP_011530280.1:p.Gln780Arg | |
| NM_000901.5:c.2327A>G MANE Select | NP_000892.2:p.Gln776Arg | |
| NM_001166104.2:c.2015-1976A>G | NP_001159576.1:n.2015-1976A>G | |
| NR_148974.2:n.2272-34301A>G |