Linked Data
ClinVar Variation Id:
56091
ClinVar RCV Id:
RCV000049500
dbSNP Id:
rs386833573
PubMed:
PMID:16601880
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6534731T>C , CM000671.2:g.6534731T>C | GRCh38 |
| NC_000009.11:g.6534731T>C , CM000671.1:g.6534731T>C | GRCh37 |
| NC_000009.10:g.6524731T>C | NCBI36 |
| NG_016397.1:g.115962A>G , LRG_643:g.115962A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2896A>G MANE Select | ENSP00000370737.4:p.Arg966Gly | |
| ENST00000638233.1:n.1331A>G | ||
| ENST00000638274.1:c.48A>G | ||
| ENST00000638661.1:c.1096A>G | ENSP00000491369.1:p.Arg366Gly | |
| ENST00000638694.1:n.1083A>G | ||
| ENST00000639318.1:c.1000A>G | ENSP00000491932.1:p.Arg334Gly | |
| ENST00000639364.1:n.2596A>G | ||
| ENST00000639443.1:n.2464A>G | ||
| ENST00000639461.1:n.1997A>G | ||
| ENST00000639639.1:c.598A>G | ENSP00000491312.1:p.Arg200Gly | |
| ENST00000639954.1:n.2604A>G | ||
| ENST00000640505.1:n.1135A>G | ||
| ENST00000321612.6:c.2896A>G | ENSP00000370737.3:p.Arg966Gly | |
| ENST00000477960.1:n.477A>G | ||
| NM_000170.2:c.2896A>G , LRG_643t1:c.2896A>G | NP_000161.2:p.Arg966Gly | |
| NM_000170.3:c.2896A>G MANE Select | NP_000161.2:p.Arg966Gly |