HGVS | Genome Assembly |
---|---|
NC_000015.10:g.74339688C>A , CM000677.2:g.74339688C>A | GRCh38 |
NC_000015.9:g.74632029C>A , CM000677.1:g.74632029C>A | GRCh37 |
NC_000015.8:g.72419082C>A | NCBI36 |
NG_007973.1:g.33054G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000268053.11:c.1056G>T MANE Select | ENSP00000268053.6:p.Leu352= | |
ENST00000268053.10:c.1056G>T | ENSP00000268053.6:p.Leu352= | |
ENST00000358632.8:c.582G>T | ENSP00000351455.4:p.Leu194= | |
ENST00000435365.5:c.1056G>T | ENSP00000391081.1:p.Leu352= | |
ENST00000566674.5:c.582G>T | ENSP00000456941.1:p.Leu194= | |
NM_000781.2:c.1056G>T | NP_000772.2:p.Leu352= | |
NM_001099773.1:c.582G>T | NP_001093243.1:p.Leu194= | |
NM_000781.3:c.1056G>T MANE Select | NP_000772.2:p.Leu352= | |
NM_001099773.2:c.582G>T | NP_001093243.1:p.Leu194= |