Linked Data
dbSNP Id:
rs767245419
ExAC:
5:145719781 G / A
gnomAD v2:
5-145719781-G-A
gnomAD v3:
5-146340218-G-A
gnomAD v4:
5-146340218-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146340218G>A , CM000667.2:g.146340218G>A | GRCh38 |
| NC_000005.9:g.145719781G>A , CM000667.1:g.145719781G>A | GRCh37 |
| NC_000005.8:g.145699974G>A | NCBI36 |
| NG_011885.1:g.6195G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646991.2:c.791G>A MANE Select | ENSP00000495718.1:p.Ser264Asn | |
| ENST00000230732.4:c.791G>A | ENSP00000230732.4:p.Ser264Asn | |
| NM_002700.2:c.791G>A | NP_002691.1:p.Ser264Asn | |
| NM_002700.3:c.791G>A MANE Select | NP_002691.1:p.Ser264Asn |