HGVS | Genome Assembly |
---|---|
NC_000014.9:g.50944188C>A , CM000676.2:g.50944188C>A | GRCh38 |
NC_000014.8:g.51410906C>A , CM000676.1:g.51410906C>A | GRCh37 |
NC_000014.7:g.50480656C>A | NCBI36 |
NG_012796.1:g.5343G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000216392.8:c.216G>T MANE Select | ENSP00000216392.7:p.Gln72His | |
ENST00000216392.7:c.216G>T | ENSP00000216392.7:p.Gln72His | |
ENST00000530336.2:n.283G>T | ||
ENST00000532462.5:c.216G>T | ENSP00000431657.1:p.Gln72His | |
ENST00000544180.6:c.216G>T | ENSP00000443787.1:p.Gln72His | |
NM_001163940.1:c.216G>T | NP_001157412.1:p.Gln72His | |
NM_002863.4:c.216G>T | NP_002854.3:p.Gln72His | |
NM_002863.5:c.216G>T MANE Select | NP_002854.3:p.Gln72His | |
NM_001163940.2:c.216G>T | NP_001157412.1:p.Gln72His |