Linked Data
ClinVar Variation Id:
334369
dbSNP Id:
rs764766872
ExAC:
2:219677375 G / A
gnomAD v2:
2-219677375-G-A
gnomAD v3:
2-218812652-G-A
gnomAD v4:
2-218812652-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218812652G>A , CM000664.2:g.218812652G>A | GRCh38 |
| NC_000002.11:g.219677375G>A , CM000664.1:g.219677375G>A | GRCh37 |
| NC_000002.10:g.219385619G>A | NCBI36 |
| NG_007959.1:g.35904G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.747G>A MANE Select | ENSP00000258415.4:p.Gln249= | |
| ENST00000258415.8:c.747G>A | ENSP00000258415.4:p.Gln249= | |
| ENST00000411688.1:c.465G>A | ENSP00000392671.1:p.Gln155= | |
| ENST00000445971.1:c.*208G>A | ENSP00000404945.1:n.*208G>A | |
| ENST00000466602.1:n.695G>A | ||
| ENST00000494263.5:n.1181G>A | ||
| NM_000784.3:c.747G>A | NP_000775.1:p.Gln249= | |
| XM_017003488.2:c.327G>A | XP_016858977.1:p.Gln109= | |
| NM_000784.4:c.747G>A MANE Select | NP_000775.1:p.Gln249= |