Linked Data
ClinVar Variation Id:
21537
dbSNP Id:
rs1061695
ExAC:
7:66459256 T / C
gnomAD v2:
7-66459256-T-C
gnomAD v3:
7-66994269-T-C
gnomAD v4:
7-66994269-T-C
PubMed:
PMID:20301722
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66994269T>C , CM000669.2:g.66994269T>C | GRCh38 |
| NC_000007.13:g.66459256T>C , CM000669.1:g.66459256T>C | GRCh37 |
| NC_000007.12:g.66096691T>C | NCBI36 |
| NG_007277.1:g.6333A>G , LRG_104:g.6333A>G | |
| NG_033069.1:g.2465T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000414306.6:c.201A>G | ENSP00000394586.1:p.Lys67= | |
| ENST00000697860.1:n.168A>G | ||
| ENST00000697861.1:c.201A>G | ENSP00000513460.1:p.Lys67= | |
| ENST00000697862.1:c.201A>G | ENSP00000513461.1:p.Lys67= | |
| ENST00000697863.1:c.144A>G | ENSP00000513462.1:p.Lys48= | |
| ENST00000697864.1:n.1345A>G | ||
| ENST00000697865.1:c.144A>G | ENSP00000513463.1:p.Lys48= | |
| ENST00000697866.1:c.-118A>G | ENSP00000513464.1:n.-118A>G | |
| ENST00000697867.1:c.41A>G | ||
| ENST00000697868.1:c.142A>G | ENSP00000513466.1:p.Lys48Glu | |
| ENST00000697869.1:c.137A>G | ENSP00000513467.1:p.Lys46Arg | |
| ENST00000697897.1:c.201A>G | ENSP00000513469.1:p.Lys67= | |
| ENST00000246868.7:c.201A>G MANE Select | ENSP00000246868.2:p.Lys67= | |
| ENST00000246868.6:c.201A>G | ENSP00000246868.2:p.Lys67= | |
| ENST00000414306.5:c.201A>G | ENSP00000394586.1:p.Lys67= | |
| ENST00000463579.1:n.98A>G | ||
| ENST00000490953.5:n.350A>G | ||
| ENST00000617799.1:c.201A>G | ENSP00000483040.1:p.Lys67= | |
| NM_016038.2:c.201A>G , LRG_104t1:c.201A>G | NP_057122.2:p.Lys67= | |
| NM_016038.3:c.201A>G | NP_057122.2:p.Lys67= | |
| NM_016038.4:c.201A>G MANE Select | NP_057122.2:p.Lys67= |