HGVS | Genome Assembly |
---|---|
NC_000001.11:g.100539849C>G , CM000663.2:g.100539849C>G | GRCh38 |
NC_000001.10:g.101005405C>G , CM000663.1:g.101005405C>G | GRCh37 |
NC_000001.9:g.100777993C>G | NCBI36 |
NG_053134.1:g.6678C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000315033.5:c.883C>G MANE Select | ENSP00000314223.4:p.Leu295Val | |
ENST00000315033.4:c.883C>G | ENSP00000314223.4:p.Leu295Val | |
NM_022049.2:c.883C>G | NP_071332.2:p.Leu295Val | |
NM_022049.3:c.883C>G MANE Select | NP_071332.2:p.Leu295Val |