HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4734416C>A , CM000679.2:g.4734416C>A | GRCh38 |
NC_000017.10:g.4637711C>A , CM000679.1:g.4637711C>A | GRCh37 |
NC_000017.9:g.4584460C>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000293778.12:c.*87G>T MANE Select | ENSP00000293778.7:n.*87G>T | |
ENST00000574412.6:c.*190G>T | ENSP00000459592.2:n.*190G>T | |
ENST00000293778.10:c.*87G>T | ENSP00000293778.6:n.*87G>T | |
ENST00000574412.5:c.*190G>T | ENSP00000459592.1:n.*190G>T | |
ENST00000576153.5:n.643G>T | ||
NM_022059.3:c.*87G>T | NP_071342.2:n.*87G>T | |
NM_022059.4:c.*87G>T | NP_071342.2:n.*87G>T | |
NM_001386809.1:c.*87G>T MANE Select | NP_001373738.1:n.*87G>T |