HGVS | Genome Assembly |
---|---|
NC_000015.10:g.74339706C>T , CM000677.2:g.74339706C>T | GRCh38 |
NC_000015.9:g.74632047C>T , CM000677.1:g.74632047C>T | GRCh37 |
NC_000015.8:g.72419100C>T | NCBI36 |
NG_007973.1:g.33036G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000268053.11:c.1038G>A MANE Select | ENSP00000268053.6:p.Leu346= | |
ENST00000268053.10:c.1038G>A | ENSP00000268053.6:p.Leu346= | |
ENST00000358632.8:c.564G>A | ENSP00000351455.4:p.Leu188= | |
ENST00000435365.5:c.1038G>A | ENSP00000391081.1:p.Leu346= | |
ENST00000566674.5:c.564G>A | ENSP00000456941.1:p.Leu188= | |
NM_000781.2:c.1038G>A | NP_000772.2:p.Leu346= | |
NM_001099773.1:c.564G>A | NP_001093243.1:p.Leu188= | |
NM_000781.3:c.1038G>A MANE Select | NP_000772.2:p.Leu346= | |
NM_001099773.2:c.564G>A | NP_001093243.1:p.Leu188= |