HGVS | Genome Assembly |
---|---|
NC_000002.12:g.178014354T>A , CM000664.2:g.178014354T>A | GRCh38 |
NC_000002.11:g.178879081T>A , CM000664.1:g.178879081T>A | GRCh37 |
NC_000002.10:g.178587327T>A | NCBI36 |
NG_012168.1:g.98986A>T | |
NG_012168.2:g.98986A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000286063.11:c.1019A>T MANE Select | ENSP00000286063.5:p.Gln340Leu | |
ENST00000286063.10:c.1019A>T | ENSP00000286063.5:p.Gln340Leu | |
ENST00000358450.8:c.269A>T | ENSP00000351232.4:p.Gln90Leu | |
NM_001077197.1:c.269A>T | NP_001070665.1:p.Gln90Leu | |
NM_016953.3:c.1019A>T | NP_058649.3:p.Gln340Leu | |
NM_016953.4:c.1019A>T MANE Select | NP_058649.3:p.Gln340Leu | |
NM_001077197.2:c.269A>T | NP_001070665.1:p.Gln90Leu |