HGVS | Genome Assembly |
---|---|
NC_000007.14:g.17339756A>T , CM000669.2:g.17339756A>T | GRCh38 |
NC_000007.13:g.17379380A>T , CM000669.1:g.17379380A>T | GRCh37 |
NC_000007.12:g.17345905A>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242057.9:c.1931A>T MANE Select | ENSP00000242057.4:p.His644Leu | |
ENST00000637807.1:c.1901A>T | ENSP00000490530.1:p.His634Leu | |
ENST00000642825.1:c.1886A>T | ENSP00000495987.1:p.His629Leu | |
ENST00000242057.8:c.1931A>T | ENSP00000242057.4:p.His644Leu | |
ENST00000463496.1:c.1931A>T | ENSP00000436466.1:p.His644Leu | |
NM_001621.4:c.1931A>T | NP_001612.1:p.His644Leu | |
NM_001621.5:c.1931A>T MANE Select | NP_001612.1:p.His644Leu |