HGVS | Genome Assembly |
---|---|
NC_000007.14:g.98186938T>G , CM000669.2:g.98186938T>G | GRCh38 |
NC_000007.13:g.97816250T>G , CM000669.1:g.97816250T>G | GRCh37 |
NC_000007.12:g.97654186T>G | NCBI36 |
NG_013375.1:g.85054T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000297293.6:c.938T>G MANE Select | ENSP00000297293.5:p.Leu313Ter | |
ENST00000297293.5:c.938T>G | ENSP00000297293.5:p.Leu313Ter | |
NM_014916.3:c.938T>G | NP_055731.2:p.Leu313Ter | |
XM_011515981.1:c.932T>G | XP_011514283.1:p.Leu311Ter | |
XM_011515981.3:c.932T>G | XP_011514283.1:p.Leu311Ter | |
NM_014916.4:c.938T>G MANE Select | NP_055731.2:p.Leu313Ter |