Linked Data
ClinVar Variation Id:
499395
dbSNP Id:
rs748325824
ExAC:
2:219677025 A / G
gnomAD v2:
2-219677025-A-G
gnomAD v4:
2-218812302-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218812302A>G , CM000664.2:g.218812302A>G | GRCh38 |
| NC_000002.11:g.219677025A>G , CM000664.1:g.219677025A>G | GRCh37 |
| NC_000002.10:g.219385269A>G | NCBI36 |
| NG_007959.1:g.35554A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.527A>G MANE Select | ENSP00000258415.4:p.Asp176Gly | |
| ENST00000258415.8:c.527A>G | ENSP00000258415.4:p.Asp176Gly | |
| ENST00000411688.1:c.245A>G | ENSP00000392671.1:p.Asp82Gly | |
| ENST00000445971.1:c.336A>G | ENSP00000404945.1:p.Gly112= | |
| ENST00000466602.1:n.345A>G | ||
| ENST00000494263.5:n.961A>G | ||
| NM_000784.3:c.527A>G | NP_000775.1:p.Asp176Gly | |
| XM_017003488.2:c.107A>G | XP_016858977.1:p.Asp36Gly | |
| NM_000784.4:c.527A>G MANE Select | NP_000775.1:p.Asp176Gly |