HGVS | Genome Assembly |
---|---|
NC_000001.11:g.114677994A>C , CM000663.2:g.114677994A>C | GRCh38 |
NC_000001.10:g.115220615A>C , CM000663.1:g.115220615A>C | GRCh37 |
NC_000001.9:g.115022138A>C | NCBI36 |
NG_008012.1:g.22562T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369538.4:c.1128T>G | ENSP00000358551.4:p.Asn376Lys | |
ENST00000520113.7:c.1140T>G MANE Select | ENSP00000430075.3:p.Asn380Lys | |
ENST00000637080.1:c.923T>G | ENSP00000489753.1:n.923T>G | |
ENST00000639077.1:n.805T>G | ||
ENST00000369538.3:c.1227T>G | ENSP00000358551.3:p.Asn409Lys | |
ENST00000520113.6:c.1239T>G | ENSP00000430075.2:p.Asn413Lys | |
NM_000036.2:c.1239T>G | NP_000027.2:p.Asn413Lys | |
NM_001172626.1:c.1227T>G | NP_001166097.1:p.Asn409Lys | |
NM_000036.3:c.1140T>G MANE Select | NP_000027.3:p.Asn380Lys | |
NM_001172626.2:c.1128T>G | NP_001166097.2:p.Asn376Lys |