Linked Data
ClinVar Variation Id:
56088
ClinVar RCV Id:
RCV000049497
dbSNP Id:
rs386833569
COSMIC:
COSM462386
PubMed:
PMID:16450403
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6534789C>G , CM000671.2:g.6534789C>G | GRCh38 |
| NC_000009.11:g.6534789C>G , CM000671.1:g.6534789C>G | GRCh37 |
| NC_000009.10:g.6524789C>G | NCBI36 |
| NG_016397.1:g.115904G>C , LRG_643:g.115904G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2839-1G>C MANE Select | ENSP00000370737.4:n.2839-1G>C | |
| ENST00000638233.1:n.1274-1G>C | ||
| ENST00000638661.1:c.1039-1G>C | ENSP00000491369.1:n.1039-1G>C | |
| ENST00000638694.1:n.1026-1G>C | ||
| ENST00000639318.1:c.943-1G>C | ENSP00000491932.1:n.943-1G>C | |
| ENST00000639364.1:n.2539-1G>C | ||
| ENST00000639443.1:n.2407-1G>C | ||
| ENST00000639461.1:n.1940-1G>C | ||
| ENST00000639639.1:c.541-1G>C | ENSP00000491312.1:n.541-1G>C | |
| ENST00000639954.1:n.2547-1G>C | ||
| ENST00000640505.1:n.1078-1G>C | ||
| ENST00000321612.6:c.2839-1G>C | ENSP00000370737.3:n.2839-1G>C | |
| ENST00000477960.1:n.420-1G>C | ||
| NM_000170.2:c.2839-1G>C , LRG_643t1:c.2839-1G>C | NP_000161.2:n.2839-1G>C | |
| NM_000170.3:c.2839-1G>C MANE Select | NP_000161.2:n.2839-1G>C |