HGVS | Genome Assembly |
---|---|
NC_000010.11:g.114045110G>C , CM000672.2:g.114045110G>C | GRCh38 |
NC_000010.10:g.115804869G>C , CM000672.1:g.115804869G>C | GRCh37 |
NC_000010.9:g.115794859G>C | NCBI36 |
NG_012187.1:g.6064G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369295.4:c.978G>C MANE Select | ENSP00000358301.2:p.Leu326= | |
ENST00000369295.3:c.978G>C | ENSP00000358301.2:p.Leu326= | |
NM_000684.2:c.978G>C | NP_000675.1:p.Leu326= | |
NM_000684.3:c.978G>C MANE Select | NP_000675.1:p.Leu326= |