Linked Data
dbSNP Id:
rs746144650
ExAC:
12:58157496 A / C
gnomAD v2:
12-58157496-A-C
gnomAD v3:
12-57763713-A-C
gnomAD v4:
12-57763713-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57763713A>C , CM000674.2:g.57763713A>C | GRCh38 |
| NC_000012.11:g.58157496A>C , CM000674.1:g.58157496A>C | GRCh37 |
| NC_000012.10:g.56443763A>C | NCBI36 |
| NG_007076.1:g.8481T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713544.1:c.1392T>G | ENSP00000518840.1:p.Gly464= | |
| ENST00000713545.1:c.*316T>G | ENSP00000518841.1:n.*316T>G | |
| ENST00000228606.9:c.1311T>G MANE Select | ENSP00000228606.4:p.Gly437= | |
| ENST00000228606.8:c.1311T>G | ENSP00000228606.4:p.Gly437= | |
| ENST00000547344.5:n.1450T>G | ||
| NM_000785.3:c.1311T>G | NP_000776.1:p.Gly437= | |
| NM_000785.4:c.1311T>G MANE Select | NP_000776.1:p.Gly437= |