HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48459798G= , CM000675.2:g.48459798G= | GRCh38 |
NC_000013.10:g.49033934G= , CM000675.1:g.49033934G= | GRCh37 |
NC_000013.9:g.47931935G= | NCBI36 |
NG_009009.1:g.161052G= , LRG_517:g.161052G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000267163.6:c.2071G= MANE Select | ENSP00000267163.4:p.Glu691= | |
ENST00000643064.1:c.194+78355G= | ||
ENST00000650461.1:c.2071G= | ENSP00000497193.1:p.Glu691= | |
ENST00000267163.4:c.2071G= | ENSP00000267163.4:p.Glu691= | |
NM_000321.2:c.2071G= , LRG_517t1:c.2071G= | NP_000312.2:p.Glu691= | |
XM_011535171.1:c.1810G= | XP_011533473.1:p.Glu604= | |
XM_011535171.2:c.1810G= | XP_011533473.1:p.Glu604= | |
NM_000321.3:c.2071G= MANE Select | NP_000312.2:p.Glu691= |