HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4734480C>G , CM000679.2:g.4734480C>G | GRCh38 |
NC_000017.10:g.4637775C>G , CM000679.1:g.4637775C>G | GRCh37 |
NC_000017.9:g.4584524C>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000293778.12:c.*24-1G>C MANE Select | ENSP00000293778.7:n.*24-1G>C | |
ENST00000574412.6:c.*126G>C | ENSP00000459592.2:n.*126G>C | |
ENST00000293778.10:c.*24-1G>C | ENSP00000293778.6:n.*24-1G>C | |
ENST00000574412.5:c.*126G>C | ENSP00000459592.1:n.*126G>C | |
ENST00000576153.5:n.580-1G>C | ||
NM_022059.3:c.*24-1G>C | NP_071342.2:n.*24-1G>C | |
NM_022059.4:c.*24-1G>C | NP_071342.2:n.*24-1G>C | |
NM_001386809.1:c.*24-1G>C MANE Select | NP_001373738.1:n.*24-1G>C |