HGVS | Genome Assembly |
---|---|
NC_000014.9:g.22843303G>A , CM000676.2:g.22843303G>A | GRCh38 |
NC_000014.8:g.23312512G>A , CM000676.1:g.23312512G>A | GRCh37 |
NC_000014.7:g.22382352G>A | NCBI36 |
NG_046989.1:g.11771G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000311852.11:c.735G>A MANE Select | ENSP00000308208.6:p.Leu245= | |
ENST00000548162.2:c.735G>A | ENSP00000506068.1:p.Leu245= | |
ENST00000680097.1:c.*50G>A | ENSP00000506631.1:n.*50G>A | |
ENST00000680941.1:c.*133G>A | ENSP00000506378.1:n.*133G>A | |
ENST00000311852.10:c.735G>A | ENSP00000308208.6:p.Leu245= | |
ENST00000548162.1:n.977G>A | ||
NM_004995.3:c.735G>A | NP_004986.1:p.Leu245= | |
NM_004995.4:c.735G>A MANE Select | NP_004986.1:p.Leu245= |