HGVS | Genome Assembly |
---|---|
NC_000012.12:g.34026843A>C , CM000674.2:g.34026843A>C | GRCh38 |
NC_000012.11:g.34179778A>C , CM000674.1:g.34179778A>C | GRCh37 |
NC_000012.10:g.34071045A>C | NCBI36 |
NG_016389.1:g.9563A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000266483.7:c.1350A>C MANE Select | ENSP00000266483.2:p.Ile450= | |
ENST00000266483.6:c.1350A>C | ENSP00000266483.2:p.Ile450= | |
ENST00000538927.1:c.369+2684A>C | ENSP00000444084.1:n.369+2684A>C | |
ENST00000541875.1:c.*1090A>C | ENSP00000443142.1:n.*1090A>C | |
NM_032834.3:c.1350A>C | NP_116223.3:p.Ile450= | |
XM_024449230.1:c.1170A>C | XP_024304998.1:p.Ile390= | |
XM_024449231.1:c.1170A>C | XP_024304999.1:p.Ile390= | |
NM_032834.4:c.1350A>C MANE Select | NP_116223.3:p.Ile450= |