Linked Data
ClinVar Variation Id:
2152698
ClinVar RCV Id:
RCV003085287
dbSNP Id:
rs1595846202
MyVariant Identifiers:
chr11:g.47364219G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47342668G>A , CM000673.2:g.47342668G>A | GRCh38 |
| NC_000011.9:g.47364219G>A , CM000673.1:g.47364219G>A | GRCh37 |
| NC_000011.8:g.47320795G>A | NCBI36 |
| NG_007667.1:g.15035C>T , LRG_386:g.15035C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545968.6:c.1534C>T MANE Select | ENSP00000442795.1:p.Leu512= | |
| ENST00000256993.8:c.1534C>T | ENSP00000256993.5:p.Leu512= | |
| ENST00000399249.6:c.1534C>T | ENSP00000382193.2:p.Leu512= | |
| ENST00000544791.1:c.1534C>T | ENSP00000444259.1:p.Leu512= | |
| ENST00000545968.5:c.1534C>T | ENSP00000442795.1:p.Leu512= | |
| NM_000256.3:c.1534C>T , LRG_386t1:c.1534C>T MANE Select | NP_000247.2:p.Leu512= | |
| XM_011520117.1:c.1516C>T | XP_011518419.1:p.Leu506= | |
| XM_011520118.1:c.1534C>T | XP_011518420.1:p.Leu512= |