HGVS | Genome Assembly |
---|---|
NC_000010.11:g.103458323C>G , CM000672.2:g.103458323C>G | GRCh38 |
NC_000010.10:g.105218080C>G , CM000672.1:g.105218080C>G | GRCh37 |
NC_000010.9:g.105208070C>G | NCBI36 |
NG_016855.1:g.5569G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000329905.6:c.429G>C MANE Select | ENSP00000329926.6:p.Leu143= | |
ENST00000329905.5:c.429G>C | ENSP00000329926.5:p.Leu143= | |
NM_001001412.3:c.429G>C | NP_001001412.3:p.Leu143= | |
NM_001001412.4:c.429G>C MANE Select | NP_001001412.3:p.Leu143= |