HGVS | Genome Assembly |
---|---|
NC_000011.10:g.2583448C>A , CM000673.2:g.2583448C>A | GRCh38 |
NC_000011.9:g.2604678C>A , CM000673.1:g.2604678C>A | GRCh37 |
NC_000011.8:g.2561254C>A | NCBI36 |
NG_008935.1:g.143458C>A , LRG_287:g.143458C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000496887.7:c.674C>A | ENSP00000434560.2:p.Thr225Asn | |
ENST00000646564.2:c.491C>A | ENSP00000495806.2:p.Thr164Asn | |
ENST00000155840.12:c.935C>A MANE Select | ENSP00000155840.2:p.Thr312Asn | |
ENST00000335475.6:c.554C>A | ENSP00000334497.5:p.Thr185Asn | |
ENST00000646564.1:c.137C>A | ENSP00000495806.1:p.Thr46Asn | |
ENST00000155840.9:c.935C>A | ENSP00000155840.2:p.Thr312Asn | |
ENST00000335475.5:c.554C>A | ENSP00000334497.5:p.Thr185Asn | |
NM_000218.2:c.935C>A , LRG_287t1:c.935C>A | NP_000209.2:p.Thr312Asn | |
NM_181798.1:c.554C>A , LRG_287t2:c.554C>A | NP_861463.1:p.Thr185Asn | |
NM_000218.3:c.935C>A MANE Select | NP_000209.2:p.Thr312Asn |