HGVS | Genome Assembly |
---|---|
NC_000007.14:g.17339645T>A , CM000669.2:g.17339645T>A | GRCh38 |
NC_000007.13:g.17379269T>A , CM000669.1:g.17379269T>A | GRCh37 |
NC_000007.12:g.17345794T>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242057.9:c.1820T>A MANE Select | ENSP00000242057.4:p.Leu607Gln | |
ENST00000637807.1:c.1790T>A | ENSP00000490530.1:p.Leu597Gln | |
ENST00000642825.1:c.1775T>A | ENSP00000495987.1:p.Leu592Gln | |
ENST00000242057.8:c.1820T>A | ENSP00000242057.4:p.Leu607Gln | |
ENST00000463496.1:c.1820T>A | ENSP00000436466.1:p.Leu607Gln | |
NM_001621.4:c.1820T>A | NP_001612.1:p.Leu607Gln | |
NM_001621.5:c.1820T>A MANE Select | NP_001612.1:p.Leu607Gln |