Linked Data
dbSNP Id:
rs766581787
gnomAD v4:
12-52520183-G-C
MyVariant Identifiers:
chr12:g.52913967G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52520183G>C , CM000674.2:g.52520183G>C | GRCh38 |
| NC_000012.11:g.52913967G>C , CM000674.1:g.52913967G>C | GRCh37 |
| NC_000012.10:g.51200234G>C | NCBI36 |
| NG_008297.1:g.5277C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.114C>G MANE Select | ENSP00000252242.4:p.Ser38= | |
| ENST00000252242.8:c.114C>G | ENSP00000252242.4:p.Ser38= | |
| ENST00000546577.1:c.114C>G | ENSP00000449651.1:p.Ser38= | |
| ENST00000549420.1:c.43+71C>G | ENSP00000447209.1:n.43+71C>G | |
| ENST00000551275.1:c.114C>G | ENSP00000448041.1:p.Ser38= | |
| ENST00000552629.5:n.212C>G | ||
| NM_000424.3:c.114C>G | NP_000415.2:p.Ser38= | |
| NM_000424.4:c.114C>G MANE Select | NP_000415.2:p.Ser38= |