HGVS | Genome Assembly |
---|---|
NC_000015.10:g.74751974T= , CM000677.2:g.74751974T= | GRCh38 |
NC_000015.9:g.75044315T= , CM000677.1:g.75044315T= | GRCh37 |
NC_000015.8:g.72831368T= | NCBI36 |
NG_008431.1:g.34433T= | |
NG_008431.2:g.34433T= | |
NG_061543.1:g.8130T= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000343932.5:c.1042+120T= MANE Select | ENSP00000342007.4:n.1042+120T= | |
ENST00000343932.4:c.1042+120T= | ENSP00000342007.4:n.1042+120T= | |
NM_000761.4:c.1042+120T= | NP_000752.2:n.1042+120T= | |
NM_000761.5:c.1042+120T= MANE Select | NP_000752.2:n.1042+120T= |