HGVS | Genome Assembly |
---|---|
NC_000014.9:g.22843308T>A , CM000676.2:g.22843308T>A | GRCh38 |
NC_000014.8:g.23312517T>A , CM000676.1:g.23312517T>A | GRCh37 |
NC_000014.7:g.22382357T>A | NCBI36 |
NG_046989.1:g.11776T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000311852.11:c.740T>A MANE Select | ENSP00000308208.6:p.Leu247His | |
ENST00000548162.2:c.740T>A | ENSP00000506068.1:p.Leu247His | |
ENST00000680097.1:c.*55T>A | ENSP00000506631.1:n.*55T>A | |
ENST00000680941.1:c.*138T>A | ENSP00000506378.1:n.*138T>A | |
ENST00000311852.10:c.740T>A | ENSP00000308208.6:p.Leu247His | |
ENST00000548162.1:n.982T>A | ||
NM_004995.3:c.740T>A | NP_004986.1:p.Leu247His | |
NM_004995.4:c.740T>A MANE Select | NP_004986.1:p.Leu247His |