Linked Data
dbSNP Id:
rs745769395
ExAC:
5:158747333 G / C
gnomAD v2:
5-158747333-G-C
gnomAD v4:
5-159320325-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159320325G>C , CM000667.2:g.159320325G>C | GRCh38 |
| NC_000005.9:g.158747333G>C , CM000667.1:g.158747333G>C | GRCh37 |
| NC_000005.8:g.158679911G>C | NCBI36 |
| NG_009618.1:g.15149C>G , LRG_71:g.15149C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696750.1:c.48C>G | ENSP00000512849.1:p.Ser16Arg | |
| ENST00000696751.1:c.*173C>G | ENSP00000512850.1:n.*173C>G | |
| ENST00000231228.3:c.678C>G MANE Select | ENSP00000231228.2:p.Ser226Arg | |
| ENST00000231228.2:c.678C>G | ENSP00000231228.2:p.Ser226Arg | |
| NM_002187.2:c.678C>G , LRG_71t1:c.678C>G | NP_002178.2:p.Ser226Arg | |
| NM_002187.3:c.678C>G MANE Select | NP_002178.2:p.Ser226Arg |