HGVS | Genome Assembly |
---|---|
NC_000010.11:g.104072066T>G , CM000672.2:g.104072066T>G | GRCh38 |
NC_000010.10:g.105831824T>G , CM000672.1:g.105831824T>G | GRCh37 |
NC_000010.9:g.105821814T>G | NCBI36 |
NG_007069.1:g.18815A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000369733.8:c.429A>C | ENSP00000358748.3:p.Arg143= | |
ENST00000648076.2:c.429A>C MANE Select | ENSP00000497653.1:p.Arg143= | |
ENST00000649118.1:n.544A>C | ||
ENST00000650263.1:c.381A>C | ENSP00000497850.1:p.Arg127= | |
ENST00000353479.9:c.429A>C | ENSP00000340937.5:p.Arg143= | |
ENST00000369733.7:c.429A>C | ENSP00000358748.3:p.Arg143= | |
ENST00000393211.3:c.429A>C | ENSP00000376905.3:p.Arg143= | |
ENST00000483876.1:n.479A>C | ||
NM_000494.3:c.429A>C | NP_000485.3:p.Arg143= | |
NM_000494.4:c.429A>C MANE Select | NP_000485.3:p.Arg143= |