HGVS | Genome Assembly |
---|---|
NC_000014.9:g.22843295C>A , CM000676.2:g.22843295C>A | GRCh38 |
NC_000014.8:g.23312504C>A , CM000676.1:g.23312504C>A | GRCh37 |
NC_000014.7:g.22382344C>A | NCBI36 |
NG_046989.1:g.11763C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000311852.11:c.727C>A MANE Select | ENSP00000308208.6:p.His243Asn | |
ENST00000548162.2:c.727C>A | ENSP00000506068.1:p.His243Asn | |
ENST00000680097.1:c.*42C>A | ENSP00000506631.1:n.*42C>A | |
ENST00000680941.1:c.*125C>A | ENSP00000506378.1:n.*125C>A | |
ENST00000311852.10:c.727C>A | ENSP00000308208.6:p.His243Asn | |
ENST00000548162.1:n.969C>A | ||
NM_004995.3:c.727C>A | NP_004986.1:p.His243Asn | |
NM_004995.4:c.727C>A MANE Select | NP_004986.1:p.His243Asn |