Linked Data
ClinVar Variation Id:
164116
dbSNP Id:
rs727503202
gnomAD v4:
11-47342825-C-G
PubMed:
PMID:28679633
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47342825C>G , CM000673.2:g.47342825C>G | GRCh38 |
| NC_000011.9:g.47364376C>G , CM000673.1:g.47364376C>G | GRCh37 |
| NC_000011.8:g.47320952C>G | NCBI36 |
| NG_007667.1:g.14878G>C , LRG_386:g.14878G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.1457+5G>C MANE Select | ENSP00000442795.1:n.1457+5G>C | |
| ENST00000256993.8:c.1457+5G>C | ENSP00000256993.5:n.1457+5G>C | |
| ENST00000399249.6:c.1457+5G>C | ENSP00000382193.2:n.1457+5G>C | |
| ENST00000544791.1:c.1457+5G>C | ENSP00000444259.1:n.1457+5G>C | |
| ENST00000545968.5:c.1457+5G>C | ENSP00000442795.1:n.1457+5G>C | |
| NM_000256.3:c.1457+5G>C , LRG_386t1:c.1457+5G>C MANE Select | NP_000247.2:n.1457+5G>C | |
| XM_011520117.1:c.1439+5G>C | XP_011518419.1:n.1439+5G>C | |
| XM_011520118.1:c.1457+5G>C | XP_011518420.1:n.1457+5G>C |