HGVS | Genome Assembly |
---|---|
NC_000010.11:g.114044180G>T , CM000672.2:g.114044180G>T | GRCh38 |
NC_000010.10:g.115803939G>T , CM000672.1:g.115803939G>T | GRCh37 |
NC_000010.9:g.115793929G>T | NCBI36 |
NG_012187.1:g.5134G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369295.4:c.48G>T MANE Select | ENSP00000358301.2:p.Leu16= | |
ENST00000369295.3:c.48G>T | ENSP00000358301.2:p.Leu16= | |
NM_000684.2:c.48G>T | NP_000675.1:p.Leu16= | |
NM_000684.3:c.48G>T MANE Select | NP_000675.1:p.Leu16= |