HGVS | Genome Assembly |
---|---|
NC_000012.12:g.69350133T>A , CM000674.2:g.69350133T>A | GRCh38 |
NC_000012.11:g.69743913T>A , CM000674.1:g.69743913T>A | GRCh37 |
NC_000012.10:g.68030180T>A | NCBI36 |
NG_008195.1:g.6780T>A , LRG_768:g.6780T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261267.7:c.162T>A MANE Select | ENSP00000261267.2:p.Ser54Arg | |
ENST00000261267.6:c.162T>A | ENSP00000261267.2:p.Ser54Arg | |
ENST00000548839.1:c.162T>A | ENSP00000449969.1:p.Ser54Arg | |
ENST00000549690.1:c.162T>A | ENSP00000449898.1:p.Ser54Arg | |
NM_000239.2:c.162T>A , LRG_768t1:c.162T>A | NP_000230.1:p.Ser54Arg | |
NM_000239.3:c.162T>A MANE Select | NP_000230.1:p.Ser54Arg |