HGVS | Genome Assembly |
---|---|
NC_000001.11:g.15440431T= , CM000663.2:g.15440431T= | GRCh38 |
NC_000001.10:g.15766927T= , CM000663.1:g.15766927T= | GRCh37 |
NC_000001.9:g.15639514T= | NCBI36 |
NG_009253.1:g.6990T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375949.5:c.132+40T= MANE Select | ENSP00000365116.4:n.132+40T= | |
ENST00000375943.6:c.40+1927T= | ENSP00000365110.2:n.40+1927T= | |
ENST00000375949.4:c.132+40T= | ENSP00000365116.4:n.132+40T= | |
ENST00000476813.5:n.52+1927T= | ||
ENST00000483406.1:n.42+40T= | ||
NM_007272.2:c.132+40T= | NP_009203.2:n.132+40T= | |
XM_011540550.1:c.132+40T= | XP_011538852.1:n.132+40T= | |
NM_007272.3:c.132+40T= MANE Select | NP_009203.2:n.132+40T= |