Linked Data
ClinVar Variation Id:
1172050
dbSNP Id:
rs766494998
ExAC:
11:2604673 C / A
gnomAD v2:
11-2604673-C-A
gnomAD v3:
11-2583443-C-A
gnomAD v4:
11-2583443-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2583443C>A , CM000673.2:g.2583443C>A | GRCh38 |
| NC_000011.9:g.2604673C>A , CM000673.1:g.2604673C>A | GRCh37 |
| NC_000011.8:g.2561249C>A | NCBI36 |
| NG_008935.1:g.143453C>A , LRG_287:g.143453C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.669C>A | ENSP00000434560.2:p.Val223= | |
| ENST00000646564.2:c.486C>A | ENSP00000495806.2:p.Val162= | |
| ENST00000155840.12:c.930C>A MANE Select | ENSP00000155840.2:p.Val310= | |
| ENST00000335475.6:c.549C>A | ENSP00000334497.5:p.Val183= | |
| ENST00000646564.1:c.132C>A | ENSP00000495806.1:p.Val44= | |
| ENST00000155840.9:c.930C>A | ENSP00000155840.2:p.Val310= | |
| ENST00000335475.5:c.549C>A | ENSP00000334497.5:p.Val183= | |
| NM_000218.2:c.930C>A , LRG_287t1:c.930C>A | NP_000209.2:p.Val310= | |
| NM_181798.1:c.549C>A , LRG_287t2:c.549C>A | NP_861463.1:p.Val183= | |
| NM_000218.3:c.930C>A MANE Select | NP_000209.2:p.Val310= |