HGVS | Genome Assembly |
---|---|
NC_000020.11:g.46011263G>A , CM000682.2:g.46011263G>A | GRCh38 |
NC_000020.10:g.44639902G>A , CM000682.1:g.44639902G>A | GRCh37 |
NC_000020.9:g.44073309G>A | NCBI36 |
NG_011468.1:g.7356G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372330.3:c.770G>A MANE Select | ENSP00000361405.3:p.Ser257Asn | |
NM_004994.2:c.770G>A | NP_004985.2:p.Ser257Asn | |
NM_004994.3:c.770G>A MANE Select | NP_004985.2:p.Ser257Asn |