HGVS | Genome Assembly |
---|---|
NC_000005.10:g.142143335G>C , CM000667.2:g.142143335G>C | GRCh38 |
NC_000005.9:g.141522900G>C , CM000667.1:g.141522900G>C | GRCh37 |
NC_000005.8:g.141503084G>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000253814.6:c.563-1236G>C MANE Select | ENSP00000253814.3:n.563-1236G>C | |
ENST00000253814.5:c.563-1236G>C | ENSP00000253814.3:n.563-1236G>C | |
ENST00000503388.1:n.358G>C | ||
NM_030571.3:c.563-1236G>C | NP_085048.1:n.563-1236G>C | |
NM_030571.4:c.563-1236G>C MANE Select | NP_085048.1:n.563-1236G>C |