HGVS | Genome Assembly |
---|---|
NC_000019.10:g.35284835G>C , CM000681.2:g.35284835G>C | GRCh38 |
NC_000019.9:g.35775738G>C , CM000681.1:g.35775738G>C | GRCh37 |
NC_000019.8:g.40467578G>C | NCBI36 |
NG_011563.1:g.7329G>C | |
NG_011563.2:g.7329G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000222304.5:c.137G>C MANE Select | ENSP00000222304.2:p.Arg46Thr | |
ENST00000222304.3:c.137G>C | ENSP00000222304.2:p.Arg46Thr | |
ENST00000593580.1:n.2319G>C | ||
ENST00000598398.5:c.137G>C | ENSP00000471894.1:p.Arg46Thr | |
NM_021175.2:c.137G>C | NP_066998.1:p.Arg46Thr | |
NM_021175.3:c.137G>C | NP_066998.1:p.Arg46Thr | |
NM_021175.4:c.137G>C MANE Select | NP_066998.1:p.Arg46Thr |