HGVS | Genome Assembly |
---|---|
NC_000001.11:g.109264542T>G , CM000663.2:g.109264542T>G | GRCh38 |
NC_000001.10:g.109807164T>G , CM000663.1:g.109807164T>G | GRCh37 |
NC_000001.9:g.109608687T>G | NCBI36 |
NG_052669.1:g.19838T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000271332.4:c.5378T>G MANE Select | ENSP00000271332.3:p.Leu1793Arg | |
ENST00000271332.3:c.5378T>G | ENSP00000271332.3:p.Leu1793Arg | |
NM_001408.2:c.5378T>G | NP_001399.1:p.Leu1793Arg | |
XM_005270580.3:c.5378T>G | XP_005270637.1:p.Leu1793Arg | |
NM_001408.3:c.5378T>G MANE Select | NP_001399.1:p.Leu1793Arg |