HGVS | Genome Assembly |
---|---|
NC_000005.10:g.80674996A>C , CM000667.2:g.80674996A>C | GRCh38 |
NC_000005.9:g.79970815A>C , CM000667.1:g.79970815A>C | GRCh37 |
NC_000005.8:g.80006571A>C | NCBI36 |
NG_016607.1:g.25522A>C | |
NG_016607.2:g.25522A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000265081.7:c.1041A>C MANE Select | ENSP00000265081.6:p.Leu347= | |
ENST00000658259.1:c.873A>C | ENSP00000499617.1:p.Leu291= | |
ENST00000667069.1:c.1041A>C | ENSP00000499502.1:p.Leu347= | |
ENST00000670357.1:c.1041A>C | ENSP00000499791.1:p.Leu347= | |
ENST00000265081.6:c.1041A>C | ENSP00000265081.6:p.Leu347= | |
NM_002439.4:c.1041A>C | NP_002430.3:p.Leu347= | |
NM_002439.5:c.1041A>C MANE Select | NP_002430.3:p.Leu347= |