HGVS | Genome Assembly |
---|---|
NC_000011.10:g.69818776T>G , CM000673.2:g.69818776T>G | GRCh38 |
NC_000011.9:g.69633544T>G , CM000673.1:g.69633544T>G | GRCh37 |
NC_000011.8:g.69342481T>G | NCBI36 |
NG_009016.1:g.5649A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000334134.4:c.158A>C MANE Select | ENSP00000334122.2:p.Lys53Thr | |
ENST00000334134.2:c.158A>C | ENSP00000334122.2:p.Lys53Thr | |
NM_005247.2:c.158A>C | NP_005238.1:p.Lys53Thr | |
NM_005247.3:c.158A>C | NP_005238.1:p.Lys53Thr | |
NM_005247.4:c.158A>C MANE Select | NP_005238.1:p.Lys53Thr |