HGVS | Genome Assembly |
---|---|
NC_000007.14:g.17339645T= , CM000669.2:g.17339645T= | GRCh38 |
NC_000007.13:g.17379269T= , CM000669.1:g.17379269T= | GRCh37 |
NC_000007.12:g.17345794T= | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242057.9:c.1820T= MANE Select | ENSP00000242057.4:p.Leu607= | |
ENST00000637807.1:c.1790T= | ENSP00000490530.1:p.Leu597= | |
ENST00000642825.1:c.1775T= | ENSP00000495987.1:p.Leu592= | |
ENST00000242057.8:c.1820T= | ENSP00000242057.4:p.Leu607= | |
ENST00000463496.1:c.1820T= | ENSP00000436466.1:p.Leu607= | |
NM_001621.4:c.1820T= | NP_001612.1:p.Leu607= | |
NM_001621.5:c.1820T= MANE Select | NP_001612.1:p.Leu607= |