HGVS | Genome Assembly |
---|---|
NC_000005.10:g.148827656A>G , CM000667.2:g.148827656A>G | GRCh38 |
NC_000005.9:g.148207219A>G , CM000667.1:g.148207219A>G | GRCh37 |
NC_000005.8:g.148187412A>G | NCBI36 |
NG_016421.1:g.6064A>G | |
NG_016421.2:g.6064A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305988.6:c.825A>G MANE Select | ENSP00000305372.4:p.Leu275= | |
ENST00000305988.5:c.825A>G | ENSP00000305372.4:p.Leu275= | |
NM_000024.5:c.825A>G | NP_000015.1:p.Leu275= | |
NM_000024.6:c.825A>G MANE Select | NP_000015.2:p.Leu275= |