HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4734162T>C , CM000679.2:g.4734162T>C | GRCh38 |
NC_000017.10:g.4637457T>C , CM000679.1:g.4637457T>C | GRCh37 |
NC_000017.9:g.4584206T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000293778.12:c.*341A>G MANE Select | ENSP00000293778.7:n.*341A>G | |
ENST00000293778.10:c.*341A>G | ENSP00000293778.6:n.*341A>G | |
ENST00000576153.5:n.897A>G | ||
NM_022059.3:c.*341A>G | NP_071342.2:n.*341A>G | |
NM_022059.4:c.*341A>G | NP_071342.2:n.*341A>G | |
NM_001386809.1:c.*341A>G MANE Select | NP_001373738.1:n.*341A>G |