HGVS | Genome Assembly |
---|---|
NC_000015.10:g.40471388A>G , CM000677.2:g.40471388A>G | GRCh38 |
NC_000015.9:g.40763587A>G , CM000677.1:g.40763587A>G | GRCh37 |
NC_000015.8:g.38550879A>G | NCBI36 |
NG_017074.1:g.5428A>G , LRG_600:g.5428A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000306243.7:c.175A>G MANE Select | ENSP00000307297.6:p.Met59Val | |
ENST00000306243.6:c.175A>G | ENSP00000307297.5:p.Met59Val | |
ENST00000559991.1:c.175A>G | ENSP00000453882.1:p.Met59Val | |
NM_130468.3:c.175A>G , LRG_600t1:c.175A>G | NP_569735.1:p.Met59Val | |
NM_130468.4:c.175A>G MANE Select | NP_569735.1:p.Met59Val |