HGVS | Genome Assembly |
---|---|
NC_000001.11:g.111776247C>T , CM000663.2:g.111776247C>T | GRCh38 |
NC_000001.10:g.112318869C>T , CM000663.1:g.112318869C>T | GRCh37 |
NC_000001.9:g.112120392C>T | NCBI36 |
NG_032011.2:g.217909G>A , LRG_445:g.217909G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000302127.5:c.1798G>A MANE Select | ENSP00000306923.4:p.Gly600Arg | |
ENST00000302127.4:c.1741G>A | ENSP00000306923.3:p.Gly581Arg | |
ENST00000315987.6:c.1798G>A | ENSP00000319591.2:p.Gly600Arg | |
ENST00000369697.5:c.1741G>A | ENSP00000358711.1:p.Gly581Arg | |
NM_004980.4:c.1798G>A , LRG_445t1:c.1798G>A | NP_004971.2:p.Gly600Arg | |
NM_172198.2:c.1741G>A | NP_751948.1:p.Gly581Arg | |
XM_005270851.3:c.1798G>A | XP_005270908.1:p.Gly600Arg | |
XM_006710629.2:c.1798G>A | XP_006710692.1:p.Gly600Arg | |
XM_006710630.2:c.1741G>A | XP_006710693.1:p.Gly581Arg | |
XM_006710631.2:c.*17G>A | XP_006710694.1:n.*17G>A | |
XM_005270851.4:c.1798G>A | XP_005270908.1:p.Gly600Arg | |
XM_006710629.4:c.1798G>A | XP_006710692.1:p.Gly600Arg | |
XM_006710630.3:c.1741G>A | XP_006710693.1:p.Gly581Arg | |
XM_006710631.3:c.*17G>A | XP_006710694.1:n.*17G>A | |
XM_017001244.2:c.1798G>A | XP_016856733.1:p.Gly600Arg | |
NM_001378969.1:c.1798G>A MANE Select | NP_001365898.1:p.Gly600Arg | |
NM_001378970.1:c.1741G>A | NP_001365899.1:p.Gly581Arg | |
NM_004980.5:c.1798G>A | NP_004971.2:p.Gly600Arg | |
NM_172198.3:c.1741G>A | NP_751948.1:p.Gly581Arg |