HGVS | Genome Assembly |
---|---|
NC_000012.12:g.21174600G>A , CM000674.2:g.21174600G>A | GRCh38 |
NC_000012.11:g.21327534G>A , CM000674.1:g.21327534G>A | GRCh37 |
NC_000012.10:g.21218801G>A | NCBI36 |
NG_011745.1:g.48407G>A , LRG_1022:g.48407G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000256958.3:c.250G>A MANE Select | ENSP00000256958.2:p.Val84Met | |
ENST00000256958.2:c.250G>A | ENSP00000256958.2:p.Val84Met | |
ENST00000543498.5:c.426-2176G>A | ||
NM_006446.4:c.250G>A , LRG_1022t1:c.250G>A | NP_006437.3:p.Val84Met | |
NM_006446.5:c.250G>A MANE Select | NP_006437.3:p.Val84Met |