HGVS | Genome Assembly |
---|---|
NC_000012.12:g.21174597T>G , CM000674.2:g.21174597T>G | GRCh38 |
NC_000012.11:g.21327531T>G , CM000674.1:g.21327531T>G | GRCh37 |
NC_000012.10:g.21218798T>G | NCBI36 |
NG_011745.1:g.48404T>G , LRG_1022:g.48404T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000256958.3:c.247T>G MANE Select | ENSP00000256958.2:p.Phe83Val | |
ENST00000256958.2:c.247T>G | ENSP00000256958.2:p.Phe83Val | |
ENST00000543498.5:c.426-2179T>G | ||
NM_006446.4:c.247T>G , LRG_1022t1:c.247T>G | NP_006437.3:p.Phe83Val | |
NM_006446.5:c.247T>G MANE Select | NP_006437.3:p.Phe83Val |