Linked Data
ClinVar Variation Id:
289670
dbSNP Id:
rs886044235
gnomAD v2:
3-33155589-G-C
gnomAD v3:
3-33114097-G-C
gnomAD v4:
3-33114097-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33114097G>C , CM000665.2:g.33114097G>C | GRCh38 |
| NC_000003.11:g.33155589G>C , CM000665.1:g.33155589G>C | GRCh37 |
| NC_000003.10:g.33130593G>C | NCBI36 |
| NG_008122.1:g.5140G>C , LRG_4:g.5140G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320954.11:c.20G>C MANE Select | ENSP00000323696.5:p.Gly7Ala | |
| ENST00000320954.10:c.20G>C | ENSP00000323696.5:p.Gly7Ala | |
| ENST00000449224.1:c.20G>C | ENSP00000409997.1:p.Gly7Ala | |
| NM_006371.4:c.20G>C , LRG_4t1:c.20G>C | NP_006362.1:p.Gly7Ala | |
| NM_006371.5:c.20G>C MANE Select | NP_006362.1:p.Gly7Ala | |
| NM_001393363.1:c.20G>C | NP_001380292.1:p.Gly7Ala | |
| NM_001393364.1:c.20G>C | NP_001380293.1:p.Gly7Ala | |
| NM_001393365.1:c.20G>C | NP_001380294.1:p.Gly7Ala |