Linked Data
ClinVar Variation Id:
1772240
dbSNP Id:
rs1172729937
gnomAD v2:
2-219678761-A-G
gnomAD v3:
2-218814038-A-G
gnomAD v4:
2-218814038-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218814038A>G , CM000664.2:g.218814038A>G | GRCh38 |
| NC_000002.11:g.219678761A>G , CM000664.1:g.219678761A>G | GRCh37 |
| NC_000002.10:g.219387005A>G | NCBI36 |
| NG_007959.1:g.37290A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.1035A>G MANE Select | ENSP00000258415.4:p.Thr345= | |
| ENST00000258415.8:c.1035A>G | ENSP00000258415.4:p.Thr345= | |
| ENST00000445971.1:c.*496A>G | ENSP00000404945.1:n.*496A>G | |
| ENST00000466602.1:n.1157A>G | ||
| ENST00000494263.5:n.1469A>G | ||
| NM_000784.3:c.1035A>G | NP_000775.1:p.Thr345= | |
| XM_017003488.2:c.615A>G | XP_016858977.1:p.Thr205= | |
| NM_000784.4:c.1035A>G MANE Select | NP_000775.1:p.Thr345= |