Linked Data
ClinVar Variation Id:
56061
ClinVar RCV Id:
RCV000049470
dbSNP Id:
rs386833542
PubMed:
PMID:16450403
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6556173C>G , CM000671.2:g.6556173C>G | GRCh38 |
| NC_000009.11:g.6556173C>G , CM000671.1:g.6556173C>G | GRCh37 |
| NC_000009.10:g.6546173C>G | NCBI36 |
| NG_016397.1:g.94520G>C , LRG_643:g.94520G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2182G>C MANE Select | ENSP00000370737.4:p.Gly728Arg | |
| ENST00000638233.1:n.617G>C | ||
| ENST00000638661.1:c.382G>C | ENSP00000491369.1:p.Gly128Arg | |
| ENST00000638694.1:n.369G>C | ||
| ENST00000639318.1:c.382G>C | ENSP00000491932.1:p.Gly128Arg | |
| ENST00000639364.1:n.1882G>C | ||
| ENST00000639443.1:n.1750G>C | ||
| ENST00000639954.1:n.1890G>C | ||
| ENST00000640505.1:n.421G>C | ||
| ENST00000321612.6:c.2182G>C | ENSP00000370737.3:p.Gly728Arg | |
| NM_000170.2:c.2182G>C , LRG_643t1:c.2182G>C | NP_000161.2:p.Gly728Arg | |
| NM_000170.3:c.2182G>C MANE Select | NP_000161.2:p.Gly728Arg |