HGVS | Genome Assembly |
---|---|
NC_000005.10:g.81206900C>A , CM000667.2:g.81206900C>A | GRCh38 |
NC_000005.9:g.80502719C>A , CM000667.1:g.80502719C>A | GRCh37 |
NC_000005.8:g.80538475C>A | NCBI36 |
NG_030334.1:g.251212C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000265080.9:c.2962C>A MANE Select | ENSP00000265080.4:p.Gln988Lys | |
ENST00000265080.8:c.2962C>A | ENSP00000265080.4:p.Gln988Lys | |
ENST00000503795.1:c.2962C>A | ENSP00000421771.1:p.Gln988Lys | |
NM_006909.2:c.2962C>A | NP_008840.1:p.Gln988Lys | |
XM_017009682.2:c.2677C>A | XP_016865171.1:p.Gln893Lys | |
XR_002956166.1:n.3078C>A | ||
NM_006909.3:c.2962C>A MANE Select | NP_008840.1:p.Gln988Lys |