HGVS | Genome Assembly |
---|---|
NC_000006.12:g.35500003G>T , CM000668.2:g.35500003G>T | GRCh38 |
NC_000006.11:g.35467780G>T , CM000668.1:g.35467780G>T | GRCh37 |
NC_000006.10:g.35575758G>T | NCBI36 |
NG_009077.1:g.17868C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000229771.11:c.1473C>A MANE Select | ENSP00000229771.6:p.Phe491Leu | |
ENST00000229771.10:c.1473C>A | ENSP00000229771.6:p.Phe491Leu | |
ENST00000322263.8:c.1314C>A | ENSP00000319414.4:p.Phe438Leu | |
ENST00000614066.4:c.1467C>A | ENSP00000477534.1:p.Phe489Leu | |
NM_001289395.1:c.1314C>A | NP_001276324.1:p.Phe438Leu | |
NM_003322.4:c.1473C>A | NP_003313.3:p.Phe491Leu | |
NM_003322.5:c.1473C>A | NP_003313.3:p.Phe491Leu | |
NM_003322.6:c.1473C>A MANE Select | NP_003313.3:p.Phe491Leu | |
NM_001289395.2:c.1314C>A | NP_001276324.1:p.Phe438Leu |