HGVS | Genome Assembly |
---|---|
NC_000011.10:g.69810465T>C , CM000673.2:g.69810465T>C | GRCh38 |
NC_000011.9:g.69625233T>C , CM000673.1:g.69625233T>C | GRCh37 |
NC_000011.8:g.69334414T>C | NCBI36 |
NG_009016.1:g.13960A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000334134.4:c.560A>G MANE Select | ENSP00000334122.2:p.Asp187Gly | |
ENST00000646078.1:n.407A>G | ||
ENST00000334134.2:c.560A>G | ENSP00000334122.2:p.Asp187Gly | |
NM_005247.2:c.560A>G | NP_005238.1:p.Asp187Gly | |
NM_005247.3:c.560A>G | NP_005238.1:p.Asp187Gly | |
NM_005247.4:c.560A>G MANE Select | NP_005238.1:p.Asp187Gly |