Linked Data
ClinVar Variation Id:
14059
dbSNP Id:
rs121913661
gnomAD v2:
11-67377981-G-A
gnomAD v3:
11-67610510-G-A
gnomAD v4:
11-67610510-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67610510G>A , CM000673.2:g.67610510G>A | GRCh38 |
| NC_000011.9:g.67377981G>A , CM000673.1:g.67377981G>A | GRCh37 |
| NC_000011.8:g.67134557G>A | NCBI36 |
| NG_013353.1:g.8659G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000322776.11:c.640G>A MANE Select | ENSP00000322450.6:p.Glu214Lys | |
| ENST00000647561.1:c.640G>A | ENSP00000497587.1:p.Glu214Lys | |
| ENST00000322776.10:c.640G>A | ENSP00000322450.6:p.Glu214Lys | |
| ENST00000415352.6:c.619G>A | ENSP00000395368.2:p.Glu207Lys | |
| ENST00000526169.1:n.382G>A | ||
| ENST00000526770.5:n.499G>A | ||
| ENST00000529927.5:c.613G>A | ENSP00000436766.1:p.Glu205Lys | |
| ENST00000532244.5:c.337G>A | ENSP00000435202.1:p.Glu113Lys | |
| ENST00000532303.5:c.337G>A | ENSP00000432015.1:p.Glu113Lys | |
| ENST00000533919.5:c.118G>A | ENSP00000435199.1:p.Glu40Lys | |
| NM_001166102.1:c.613G>A | NP_001159574.1:p.Glu205Lys | |
| NM_007103.3:c.640G>A | NP_009034.2:p.Glu214Lys | |
| NM_001166102.2:c.613G>A | NP_001159574.1:p.Glu205Lys | |
| NM_007103.4:c.640G>A MANE Select | NP_009034.2:p.Glu214Lys |