Linked Data
dbSNP Id:
rs149975083
ExAC:
5:145719782 C / A
gnomAD v2:
5-145719782-C-A
gnomAD v3:
5-146340219-C-A
gnomAD v4:
5-146340219-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146340219C>A , CM000667.2:g.146340219C>A | GRCh38 |
| NC_000005.9:g.145719782C>A , CM000667.1:g.145719782C>A | GRCh37 |
| NC_000005.8:g.145699975C>A | NCBI36 |
| NG_011885.1:g.6196C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646991.2:c.792C>A MANE Select | ENSP00000495718.1:p.Ser264Arg | |
| ENST00000230732.4:c.792C>A | ENSP00000230732.4:p.Ser264Arg | |
| NM_002700.2:c.792C>A | NP_002691.1:p.Ser264Arg | |
| NM_002700.3:c.792C>A MANE Select | NP_002691.1:p.Ser264Arg |