Linked Data
ClinVar Variation Id:
403114
dbSNP Id:
rs1950902
ExAC:
14:64882380 A / G
gnomAD v2:
14-64882380-A-G
gnomAD v3:
14-64415662-A-G
gnomAD v4:
14-64415662-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.64415662A>G , CM000676.2:g.64415662A>G | GRCh38 |
| NC_000014.8:g.64882380A>G , CM000676.1:g.64882380A>G | GRCh37 |
| NC_000014.7:g.63952133A>G | NCBI36 |
| NG_012450.1:g.32622A>G | |
| NG_012450.2:g.32622A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000555858.2:n.550A>G | ||
| ENST00000557539.2:c.158A>G | ENSP00000476468.2:p.Lys53Arg | |
| ENST00000697166.1:n.550A>G | ||
| ENST00000697167.1:c.401A>G | ENSP00000513155.1:p.Lys134Arg | |
| ENST00000697168.1:c.401A>G | ENSP00000513156.1:p.Lys134Arg | |
| ENST00000697169.1:c.401A>G | ENSP00000513157.1:p.Lys134Arg | |
| ENST00000697170.1:n.550A>G | ||
| ENST00000697171.1:c.401A>G | ENSP00000513158.1:p.Lys134Arg | |
| ENST00000697173.1:c.158A>G | ENSP00000513159.1:p.Lys53Arg | |
| ENST00000697174.1:c.401A>G | ENSP00000513160.1:p.Lys134Arg | |
| ENST00000697175.1:c.158A>G | ENSP00000513161.1:p.Lys53Arg | |
| ENST00000697176.1:c.158A>G | ENSP00000513162.1:p.Lys53Arg | |
| ENST00000545908.6:c.401A>G | ENSP00000438588.2:p.Lys134Arg | |
| ENST00000554768.6:c.158A>G | ENSP00000477501.2:p.Lys53Arg | |
| ENST00000555709.7:c.401A>G | ENSP00000450560.3:p.Lys134Arg | |
| ENST00000557370.3:c.401A>G | ENSP00000477199.2:p.Lys134Arg | |
| ENST00000650853.1:n.476A>G | ||
| ENST00000651537.1:c.401A>G | ENSP00000498511.1:p.Lys134Arg | |
| ENST00000652179.1:c.158A>G | ENSP00000498649.1:p.Lys53Arg | |
| ENST00000652337.1:c.401A>G MANE Select | ENSP00000498336.1:p.Lys134Arg | |
| ENST00000652503.1:n.25A>G | ||
| ENST00000216605.12:c.401A>G | ENSP00000216605.8:p.Lys134Arg | |
| ENST00000545908.5:c.569A>G | ENSP00000438588.1:p.Lys190Arg | |
| ENST00000555252.5:n.458A>G | ||
| ENST00000555709.6:c.569A>G | ENSP00000450560.2:p.Lys190Arg | |
| ENST00000557539.1:c.158A>G | ENSP00000476468.1:p.Lys53Arg | |
| NM_005956.3:c.401A>G | NP_005947.3:p.Lys134Arg | |
| NM_001364837.1:c.401A>G | NP_001351766.1:p.Lys134Arg | |
| NM_005956.4:c.401A>G MANE Select | NP_005947.3:p.Lys134Arg |