HGVS | Genome Assembly |
---|---|
NC_000007.14:g.147485936T>C , CM000669.2:g.147485936T>C | GRCh38 |
NC_000007.13:g.147183028T>C , CM000669.1:g.147183028T>C | GRCh37 |
NC_000007.12:g.146813961T>C | NCBI36 |
NG_007092.2:g.1374576T>C | |
NG_007092.3:g.1374936T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000361727.8:c.1672T>C MANE Select | ENSP00000354778.3:p.Cys558Arg | |
ENST00000636870.1:n.1534T>C | ||
ENST00000637694.1:n.1575T>C | ||
ENST00000637825.1:n.1155T>C | ||
ENST00000638117.1:n.1575T>C | ||
ENST00000361727.7:c.1672T>C | ENSP00000354778.3:p.Cys558Arg | |
NM_014141.5:c.1672T>C | NP_054860.1:p.Cys558Arg | |
XM_006715919.1:c.160T>C | XP_006715982.1:p.Cys54Arg | |
XM_017011950.2:c.1672T>C | XP_016867439.1:p.Cys558Arg | |
NM_014141.6:c.1672T>C MANE Select | NP_054860.1:p.Cys558Arg |