HGVS | Genome Assembly |
---|---|
NC_000005.10:g.14741745A= , CM000667.2:g.14741745A= | GRCh38 |
NC_000005.9:g.14741854A= , CM000667.1:g.14741854A= | GRCh37 |
NC_000005.8:g.14794854A= | NCBI36 |
NG_008273.1:g.135034T= | |
NG_008273.2:g.135041T= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000284268.8:c.1011+82T= MANE Select | ENSP00000284268.6:n.1011+82T= | |
ENST00000284268.6:c.1011+82T= | ENSP00000284268.6:n.1011+82T= | |
ENST00000503939.5:n.523+82T= | ||
ENST00000515517.1:n.327T= | ||
NM_054027.4:c.1011+82T= | NP_473368.1:n.1011+82T= | |
XM_011514067.1:c.1011+82T= | XP_011512369.1:n.1011+82T= | |
NM_054027.5:c.1011+82T= | NP_473368.1:n.1011+82T= | |
XM_017009644.2:c.927+82T= | XP_016865133.1:n.927+82T= | |
NM_054027.6:c.1011+82T= MANE Select | NP_473368.1:n.1011+82T= |