HGVS | Genome Assembly |
---|---|
NC_000002.12:g.184913778G>T , CM000664.2:g.184913778G>T | GRCh38 |
NC_000002.11:g.185778505G>T , CM000664.1:g.185778505G>T | GRCh37 |
NC_000002.10:g.185486750G>T | NCBI36 |
NG_046950.1:g.320413G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000302277.7:c.256-19825G>T MANE Select | ENSP00000303252.6:n.256-19825G>T | |
ENST00000302277.6:c.256-19825G>T | ENSP00000303252.6:n.256-19825G>T | |
ENST00000613975.1:c.1-19825G>T | ENSP00000483032.1:n.1-19825G>T | |
NM_194250.1:c.256-19825G>T | NP_919226.1:n.256-19825G>T | |
NM_194250.2:c.256-19825G>T MANE Select | NP_919226.1:n.256-19825G>T |