Linked Data
dbSNP Id:
rs767643989
ExAC:
12:5154216 C / G
gnomAD v2:
12-5154216-C-G
gnomAD v4:
12-5045050-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5045050C>G , CM000674.2:g.5045050C>G | GRCh38 |
| NC_000012.11:g.5154216C>G , CM000674.1:g.5154216C>G | GRCh37 |
| NC_000012.10:g.5024477C>G | NCBI36 |
| NG_012198.1:g.6132C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.903C>G MANE Select | ENSP00000252321.3:p.Ser301Arg | |
| ENST00000252321.4:c.903C>G | ENSP00000252321.3:p.Ser301Arg | |
| NM_002234.3:c.903C>G | NP_002225.2:p.Ser301Arg | |
| NM_002234.4:c.903C>G MANE Select | NP_002225.2:p.Ser301Arg |