Linked Data
ClinVar Variation Id:
164111
ClinVar RCV Id:
RCV000151128
dbSNP Id:
rs397515909
gnomAD v4:
11-47342667-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47342667A>G , CM000673.2:g.47342667A>G | GRCh38 |
| NC_000011.9:g.47364218A>G , CM000673.1:g.47364218A>G | GRCh37 |
| NC_000011.8:g.47320794A>G | NCBI36 |
| NG_007667.1:g.15036T>C , LRG_386:g.15036T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545968.6:c.1535T>C MANE Select | ENSP00000442795.1:p.Leu512Pro | |
| ENST00000256993.8:c.1535T>C | ENSP00000256993.5:p.Leu512Pro | |
| ENST00000399249.6:c.1535T>C | ENSP00000382193.2:p.Leu512Pro | |
| ENST00000544791.1:c.1535T>C | ENSP00000444259.1:p.Leu512Pro | |
| ENST00000545968.5:c.1535T>C | ENSP00000442795.1:p.Leu512Pro | |
| NM_000256.3:c.1535T>C , LRG_386t1:c.1535T>C MANE Select | NP_000247.2:p.Leu512Pro | |
| XM_011520117.1:c.1517T>C | XP_011518419.1:p.Leu506Pro | |
| XM_011520118.1:c.1535T>C | XP_011518420.1:p.Leu512Pro |