HGVS | Genome Assembly |
---|---|
NC_000011.10:g.46726781C>T , CM000673.2:g.46726781C>T | GRCh38 |
NC_000011.9:g.46748331C>T , CM000673.1:g.46748331C>T | GRCh37 |
NC_000011.8:g.46704907C>T | NCBI36 |
NG_008953.1:g.12589C>T , LRG_551:g.12589C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000311907.10:c.1074C>T MANE Select | ENSP00000308541.5:p.Ser358= | |
ENST00000311907.9:c.1074C>T | ENSP00000308541.5:p.Ser358= | |
ENST00000530231.5:c.1074C>T | ENSP00000433907.1:p.Ser358= | |
NM_000506.3:c.1074C>T | NP_000497.1:p.Ser358= | |
NM_000506.4:c.1074C>T , LRG_551t1:c.1074C>T | NP_000497.1:p.Ser358= | |
NM_001311257.1:c.1026C>T | NP_001298186.1:p.Ser342= | |
XR_428840.2:n.1118C>T | ||
XR_428840.4:n.1109C>T | ||
NM_000506.5:c.1074C>T MANE Select | NP_000497.1:p.Ser358= | |
NM_001311257.2:c.1026C>T | NP_001298186.1:p.Ser342= |