HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4734451T>C , CM000679.2:g.4734451T>C | GRCh38 |
NC_000017.10:g.4637746T>C , CM000679.1:g.4637746T>C | GRCh37 |
NC_000017.9:g.4584495T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000293778.12:c.*52A>G MANE Select | ENSP00000293778.7:n.*52A>G | |
ENST00000574412.6:c.*155A>G | ENSP00000459592.2:n.*155A>G | |
ENST00000293778.10:c.*52A>G | ENSP00000293778.6:n.*52A>G | |
ENST00000574412.5:c.*155A>G | ENSP00000459592.1:n.*155A>G | |
ENST00000576153.5:n.608A>G | ||
NM_022059.3:c.*52A>G | NP_071342.2:n.*52A>G | |
NM_022059.4:c.*52A>G | NP_071342.2:n.*52A>G | |
NM_001386809.1:c.*52A>G MANE Select | NP_001373738.1:n.*52A>G |