Linked Data
ClinVar Variation Id:
429323
ClinVar RCV Id:
RCV000494214
dbSNP Id:
rs779614415
ExAC:
2:189931498 C / G
gnomAD v2:
2-189931498-C-G
gnomAD v3:
2-189066772-C-G
gnomAD v4:
2-189066772-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189066772C>G , CM000664.2:g.189066772C>G | GRCh38 |
| NC_000002.11:g.189931498C>G , CM000664.1:g.189931498C>G | GRCh37 |
| NC_000002.10:g.189639743C>G | NCBI36 |
| NG_011799.1:g.118108G>C | |
| NG_011799.2:g.118108G>C | |
| NG_011799.3:g.163530G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374866.9:c.1412G>C MANE Select | ENSP00000364000.3:p.Gly471Ala | |
| ENST00000374866.7:c.1412G>C | ENSP00000364000.3:p.Gly471Ala | |
| ENST00000618828.1:c.359-339G>C | ENSP00000482184.1:n.359-339G>C | |
| NM_000393.3:c.1412G>C | NP_000384.2:p.Gly471Ala | |
| XM_011510573.1:c.1274G>C | XP_011508875.1:p.Gly425Ala | |
| NM_000393.4:c.1412G>C | NP_000384.2:p.Gly471Ala | |
| XM_011510573.3:c.1274G>C | XP_011508875.1:p.Gly425Ala | |
| NM_000393.5:c.1412G>C MANE Select | NP_000384.2:p.Gly471Ala |