HGVS | Genome Assembly |
---|---|
NC_000005.10:g.14741752C= , CM000667.2:g.14741752C= | GRCh38 |
NC_000005.9:g.14741861C= , CM000667.1:g.14741861C= | GRCh37 |
NC_000005.8:g.14794861C= | NCBI36 |
NG_008273.1:g.135027G= | |
NG_008273.2:g.135034G= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000284268.8:c.1011+75G= MANE Select | ENSP00000284268.6:n.1011+75G= | |
ENST00000284268.6:c.1011+75G= | ENSP00000284268.6:n.1011+75G= | |
ENST00000503939.5:n.523+75G= | ||
ENST00000515517.1:n.320G= | ||
NM_054027.4:c.1011+75G= | NP_473368.1:n.1011+75G= | |
XM_011514067.1:c.1011+75G= | XP_011512369.1:n.1011+75G= | |
NM_054027.5:c.1011+75G= | NP_473368.1:n.1011+75G= | |
XM_017009644.2:c.927+75G= | XP_016865133.1:n.927+75G= | |
NM_054027.6:c.1011+75G= MANE Select | NP_473368.1:n.1011+75G= |