HGVS | Genome Assembly |
---|---|
NC_000015.10:g.45480250G>A , CM000677.2:g.45480250G>A | GRCh38 |
NC_000015.9:g.45772448G>A , CM000677.1:g.45772448G>A | GRCh37 |
NC_000015.8:g.43559740G>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261867.5:c.*4913C>T MANE Select | ENSP00000261867.3:n.*4913C>T | |
ENST00000261867.4:c.*4913C>T | ENSP00000261867.3:n.*4913C>T | |
NM_013309.5:c.*4913C>T | NP_037441.2:n.*4913C>T | |
NM_013309.6:c.*4913C>T MANE Select | NP_037441.2:n.*4913C>T |