HGVS | Genome Assembly |
---|---|
NC_000003.12:g.180659515T>G , CM000665.2:g.180659515T>G | GRCh38 |
NC_000003.11:g.180377303T>G , CM000665.1:g.180377303T>G | GRCh37 |
NC_000003.10:g.181859997T>G | NCBI36 |
NG_029581.1:g.24981A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000476379.6:c.675A>C MANE Select | ENSP00000417960.2:p.Lys225Asn | |
ENST00000650641.1:n.754A>C | ||
ENST00000650889.1:n.847A>C | ||
ENST00000651046.1:c.675A>C | ENSP00000499175.1:p.Lys225Asn | |
ENST00000651818.1:n.817A>C | ||
ENST00000652024.1:n.766A>C | ||
ENST00000652408.1:n.812A>C | ||
ENST00000442201.6:c.675A>C | ENSP00000405708.2:p.Lys225Asn | |
ENST00000476379.5:c.675A>C | ENSP00000417960.1:p.Lys225Asn | |
NM_181426.1:c.675A>C | NP_852091.1:p.Lys225Asn | |
NM_181426.2:c.675A>C MANE Select | NP_852091.1:p.Lys225Asn |