HGVS | Genome Assembly |
---|---|
NC_000008.11:g.37966174A>C , CM000670.2:g.37966174A>C | GRCh38 |
NC_000008.10:g.37823692A>C , CM000670.1:g.37823692A>C | GRCh37 |
NC_000008.9:g.37942849A>C | NCBI36 |
NG_011936.1:g.5493T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000345060.5:c.296T>G MANE Select | ENSP00000343782.3:p.Leu99Arg | |
ENST00000520341.2:n.424T>G | ||
ENST00000345060.4:c.296T>G | ENSP00000343782.3:p.Leu99Arg | |
ENST00000614635.1:c.296T>G | ENSP00000480325.1:p.Leu99Arg | |
NM_000025.2:c.296T>G | NP_000016.1:p.Leu99Arg | |
NM_000025.3:c.296T>G MANE Select | NP_000016.1:p.Leu99Arg |