Linked Data
ClinVar Variation Id:
501721
dbSNP Id:
rs1238340088
gnomAD v2:
2-219647031-A-G
gnomAD v3:
2-218782308-A-G
gnomAD v4:
2-218782308-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218782308A>G , CM000664.2:g.218782308A>G | GRCh38 |
| NC_000002.11:g.219647031A>G , CM000664.1:g.219647031A>G | GRCh37 |
| NC_000002.10:g.219355275A>G | NCBI36 |
| NG_007959.1:g.5560A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.126A>G MANE Select | ENSP00000258415.4:p.Gly42= | |
| ENST00000258415.8:c.126A>G | ENSP00000258415.4:p.Gly42= | |
| ENST00000445971.1:c.126A>G | ENSP00000404945.1:p.Gly42= | |
| ENST00000466602.1:n.135A>G | ||
| ENST00000494263.5:n.560A>G | ||
| NM_000784.3:c.126A>G | NP_000775.1:p.Gly42= | |
| XM_017003488.2:c.-104A>G | XP_016858977.1:n.-104A>G | |
| NM_000784.4:c.126A>G MANE Select | NP_000775.1:p.Gly42= |