HGVS | Genome Assembly |
---|---|
NC_000007.14:g.75769711T>A , CM000669.2:g.75769711T>A | GRCh38 |
NC_000007.13:g.75399029T>A , CM000669.1:g.75399029T>A | GRCh37 |
NC_000007.12:g.75236965T>A | NCBI36 |
NG_015989.1:g.25036A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000005180.9:c.267A>T MANE Select | ENSP00000005180.4:p.Lys89Asn | |
ENST00000005180.8:c.267A>T | ENSP00000005180.4:p.Lys89Asn | |
ENST00000394905.2:c.267A>T | ENSP00000378365.2:p.Lys89Asn | |
NM_006072.4:c.267A>T | NP_006063.1:p.Lys89Asn | |
XM_017011671.1:c.429A>T | XP_016867160.1:p.Lys143Asn | |
XM_017011672.1:c.267A>T | XP_016867161.1:p.Lys89Asn | |
NM_001371936.1:c.267A>T | NP_001358865.1:p.Lys89Asn | |
NM_001371938.1:c.267A>T MANE Select | NP_001358867.1:p.Lys89Asn |