HGVS | Genome Assembly |
---|---|
NC_000007.14:g.17339468T= , CM000669.2:g.17339468T= | GRCh38 |
NC_000007.13:g.17379092T= , CM000669.1:g.17379092T= | GRCh37 |
NC_000007.12:g.17345617T= | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242057.9:c.1643T= MANE Select | ENSP00000242057.4:p.Ile548= | |
ENST00000637807.1:c.1613T= | ENSP00000490530.1:p.Ile538= | |
ENST00000642825.1:c.1598T= | ENSP00000495987.1:p.Ile533= | |
ENST00000242057.8:c.1643T= | ENSP00000242057.4:p.Ile548= | |
ENST00000463496.1:c.1643T= | ENSP00000436466.1:p.Ile548= | |
ENST00000492120.1:n.625T= | ||
NM_001621.4:c.1643T= | NP_001612.1:p.Ile548= | |
NM_001621.5:c.1643T= MANE Select | NP_001612.1:p.Ile548= |