HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6709696C>A , CM000681.2:g.6709696C>A | GRCh38 |
NC_000019.9:g.6709707C>A , CM000681.1:g.6709707C>A | GRCh37 |
NC_000019.8:g.6660707C>A | NCBI36 |
NG_009557.1:g.15956G>T , LRG_27:g.15956G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.1710G>T | ENSP00000512083.1:p.Leu570= | |
ENST00000695654.1:c.957G>T | ENSP00000512085.1:p.Leu319= | |
ENST00000695655.1:c.774G>T | ENSP00000512086.1:n.774G>T | |
ENST00000695692.1:n.1197G>T | ||
ENST00000245907.11:c.1833G>T MANE Select | ENSP00000245907.4:p.Leu611= | |
ENST00000245907.10:c.1833G>T | ENSP00000245907.4:p.Leu611= | |
NM_000064.3:c.1833G>T | NP_000055.2:p.Leu611= | |
NM_000064.4:c.1833G>T MANE Select | NP_000055.2:p.Leu611= |