Linked Data
dbSNP Id:
rs149447867
ExAC:
11:55579611 C / G
gnomAD v2:
11-55579611-C-G
gnomAD v3:
11-55812135-C-G
gnomAD v4:
11-55812135-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.55812135C>G , CM000673.2:g.55812135C>G | GRCh38 |
| NC_000011.9:g.55579611C>G , CM000673.1:g.55579611C>G | GRCh37 |
| NC_000011.8:g.55336187C>G | NCBI36 |
| NG_052620.1:g.5769C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000625203.2:c.669C>G MANE Select | ENSP00000485319.1:p.Thr223= | |
| ENST00000333973.3:c.669C>G | ENSP00000335529.2:p.Thr223= | |
| ENST00000623450.1:c.669C>G | ENSP00000485509.1:p.Thr223= | |
| ENST00000625203.1:c.669C>G | ENSP00000485319.1:p.Thr223= | |
| NM_001004738.1:c.669C>G | NP_001004738.1:p.Thr223= | |
| NM_001004738.2:c.669C>G MANE Select | NP_001004738.1:p.Thr223= |