Linked Data
ClinVar Variation Id:
2918989
ClinVar RCV Id:
RCV003739215
dbSNP Id:
rs1188731694
gnomAD v2:
11-67378938-G-A
gnomAD v3:
11-67611467-G-A
gnomAD v4:
11-67611467-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67611467G>A , CM000673.2:g.67611467G>A | GRCh38 |
| NC_000011.9:g.67378938G>A , CM000673.1:g.67378938G>A | GRCh37 |
| NC_000011.8:g.67135514G>A | NCBI36 |
| NG_013353.1:g.9616G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322776.11:c.978G>A MANE Select | ENSP00000322450.6:p.Leu326= | |
| ENST00000647561.1:c.978G>A | ENSP00000497587.1:p.Leu326= | |
| ENST00000322776.10:c.978G>A | ENSP00000322450.6:p.Leu326= | |
| ENST00000415352.6:c.957G>A | ENSP00000395368.2:p.Leu319= | |
| ENST00000526169.1:n.656-55G>A | ||
| ENST00000526770.5:n.1261G>A | ||
| ENST00000527355.5:c.267G>A | ENSP00000432637.1:p.Leu89= | |
| ENST00000527923.1:n.320G>A | ||
| ENST00000529927.5:c.951G>A | ENSP00000436766.1:p.Leu317= | |
| ENST00000532303.5:c.675G>A | ENSP00000432015.1:p.Leu225= | |
| ENST00000533919.5:c.392-10G>A | ENSP00000435199.1:n.392-10G>A | |
| NM_001166102.1:c.951G>A | NP_001159574.1:p.Leu317= | |
| NM_007103.3:c.978G>A | NP_009034.2:p.Leu326= | |
| NM_001166102.2:c.951G>A | NP_001159574.1:p.Leu317= | |
| NM_007103.4:c.978G>A MANE Select | NP_009034.2:p.Leu326= |