HGVS | Genome Assembly |
---|---|
NC_000010.11:g.86124390C>A , CM000672.2:g.86124390C>A | GRCh38 |
NC_000010.10:g.87884147C>A , CM000672.1:g.87884147C>A | GRCh37 |
NC_000010.9:g.87874127C>A | NCBI36 |
NG_011875.1:g.247104G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000327946.12:c.726+14429G>T MANE Select | ENSP00000330148.7:n.726+14429G>T | |
ENST00000327946.11:c.726+14429G>T | ENSP00000330148.7:n.726+14429G>T | |
ENST00000464741.2:c.726+14429G>T | ENSP00000433064.1:n.726+14429G>T | |
NM_017551.2:c.726+14429G>T | NP_060021.1:n.726+14429G>T | |
XM_011539720.1:c.726+14429G>T | XP_011538022.1:n.726+14429G>T | |
XM_011539720.2:c.726+14429G>T | XP_011538022.1:n.726+14429G>T | |
NM_017551.3:c.726+14429G>T MANE Select | NP_060021.1:n.726+14429G>T |