Linked Data
ClinVar Variation Id:
2072472
ClinVar RCV Id:
RCV002967125
dbSNP Id:
rs1944765598
gnomAD v3:
11-89284944-A-G
gnomAD v4:
11-89284944-A-G
MyVariant Identifiers:
chr11:g.89018112A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89284944A>G , CM000673.2:g.89284944A>G | GRCh38 |
| NC_000011.9:g.89018112A>G , CM000673.1:g.89018112A>G | GRCh37 |
| NC_000011.8:g.88657760A>G | NCBI36 |
| NG_008748.1:g.112073A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.6:c.1356A>G MANE Select | ENSP00000263321.4:p.Leu452= | |
| ENST00000263321.5:c.1356A>G | ENSP00000263321.4:p.Leu452= | |
| ENST00000528243.1:n.354A>G | ||
| NM_000372.4:c.1356A>G | NP_000363.1:p.Leu452= | |
| XM_011542970.1:c.1356A>G | XP_011541272.1:p.Leu452= | |
| XM_011542970.2:c.1356A>G | XP_011541272.1:p.Leu452= | |
| XR_001748321.1:n.2456+1090T>C | ||
| XR_001748322.1:n.2457+1090T>C | ||
| NM_000372.5:c.1356A>G MANE Select | NP_000363.1:p.Leu452= |