HGVS | Genome Assembly |
---|---|
NC_000008.11:g.85480760A>G , CM000670.2:g.85480760A>G | GRCh38 |
NC_000008.10:g.86392989A>G , CM000670.1:g.86392989A>G | GRCh37 |
NC_000008.9:g.86580241A>G | NCBI36 |
NG_007287.1:g.21744A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000285379.10:c.754A>G MANE Select | ENSP00000285379.4:p.Asn252Asp | |
ENST00000285379.9:c.754A>G | ENSP00000285379.4:p.Asn252Asp | |
ENST00000520127.5:c.*341A>G | ENSP00000428443.1:n.*341A>G | |
NM_000067.2:c.754A>G | NP_000058.1:p.Asn252Asp | |
NM_001293675.1:c.451A>G | NP_001280604.1:p.Asn151Asp | |
NM_000067.3:c.754A>G MANE Select | NP_000058.1:p.Asn252Asp | |
NM_001293675.2:c.451A>G | NP_001280604.1:p.Asn151Asp |