HGVS | Genome Assembly |
---|---|
NC_000004.12:g.55112829C>T , CM000666.2:g.55112829C>T | GRCh38 |
NC_000004.11:g.55978996C>T , CM000666.1:g.55978996C>T | GRCh37 |
NC_000004.10:g.55673753C>T | NCBI36 |
NG_012004.1:g.17767G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000263923.5:c.976+475G>A MANE Select | ENSP00000263923.4:n.976+475G>A | |
ENST00000647068.1:n.989+475G>A | ||
ENST00000263923.4:c.976+475G>A | ENSP00000263923.4:n.976+475G>A | |
ENST00000512566.1:n.976+475G>A | ||
NM_002253.2:c.976+475G>A | NP_002244.1:n.976+475G>A | |
NM_002253.3:c.976+475G>A | NP_002244.1:n.976+475G>A | |
NM_002253.4:c.976+475G>A MANE Select | NP_002244.1:n.976+475G>A |