HGVS | Genome Assembly |
---|---|
NC_000012.12:g.21178520T>G , CM000674.2:g.21178520T>G | GRCh38 |
NC_000012.11:g.21331454T>G , CM000674.1:g.21331454T>G | GRCh37 |
NC_000012.10:g.21222721T>G | NCBI36 |
NG_011745.1:g.52327T>G , LRG_1022:g.52327T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000256958.3:c.482-56T>G MANE Select | ENSP00000256958.2:n.482-56T>G | |
ENST00000256958.2:c.482-56T>G | ENSP00000256958.2:n.482-56T>G | |
NM_006446.4:c.482-56T>G , LRG_1022t1:c.482-56T>G | NP_006437.3:n.482-56T>G | |
NM_006446.5:c.482-56T>G MANE Select | NP_006437.3:n.482-56T>G |