HGVS | Genome Assembly |
---|---|
NC_000004.12:g.55081957C>A , CM000666.2:g.55081957C>A | GRCh38 |
NC_000004.11:g.55948124C>A , CM000666.1:g.55948124C>A | GRCh37 |
NC_000004.10:g.55642881C>A | NCBI36 |
NG_012004.1:g.48639G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263923.5:c.3847G>T MANE Select | ENSP00000263923.4:p.Gly1283Cys | |
ENST00000647068.1:n.3860G>T | ||
ENST00000263923.4:c.3847G>T | ENSP00000263923.4:p.Gly1283Cys | |
NM_002253.2:c.3847G>T | NP_002244.1:p.Gly1283Cys | |
NM_002253.3:c.3847G>T | NP_002244.1:p.Gly1283Cys | |
NM_002253.4:c.3847G>T MANE Select | NP_002244.1:p.Gly1283Cys |