HGVS | Genome Assembly |
---|---|
NC_000012.12:g.21178521G>T , CM000674.2:g.21178521G>T | GRCh38 |
NC_000012.11:g.21331455G>T , CM000674.1:g.21331455G>T | GRCh37 |
NC_000012.10:g.21222722G>T | NCBI36 |
NG_011745.1:g.52328G>T , LRG_1022:g.52328G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000256958.3:c.482-55G>T MANE Select | ENSP00000256958.2:n.482-55G>T | |
ENST00000256958.2:c.482-55G>T | ENSP00000256958.2:n.482-55G>T | |
NM_006446.4:c.482-55G>T , LRG_1022t1:c.482-55G>T | NP_006437.3:n.482-55G>T | |
NM_006446.5:c.482-55G>T MANE Select | NP_006437.3:n.482-55G>T |