HGVS | Genome Assembly |
---|---|
NC_000021.9:g.31667337C= , CM000683.2:g.31667337C= | GRCh38 |
NC_000021.8:g.33039650C= , CM000683.1:g.33039650C= | GRCh37 |
NC_000021.7:g.31961521C= | NCBI36 |
NG_008689.1:g.12716C= , LRG_652:g.12716C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000270142.11:c.319C= MANE Select | ENSP00000270142.7:p.Leu107= | |
ENST00000270142.10:c.319C= | ENSP00000270142.6:p.Leu107= | |
ENST00000389995.4:c.262C= | ENSP00000374645.4:p.Leu88= | |
ENST00000470944.1:n.1247C= | ||
ENST00000476106.5:n.582C= | ||
NM_000454.4:c.319C= , LRG_652t1:c.319C= | NP_000445.1:p.Leu107= | |
NM_000454.5:c.319C= MANE Select | NP_000445.1:p.Leu107= |