HGVS | Genome Assembly |
---|---|
NC_000001.11:g.247672659T>A , CM000663.2:g.247672659T>A | GRCh38 |
NC_000001.10:g.247835961T>A , CM000663.1:g.247835961T>A | GRCh37 |
NC_000001.9:g.245902584T>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000359688.4:c.383A>T | ENSP00000352717.2:p.His128Leu | |
ENST00000642119.1:c.383A>T MANE Select | ENSP00000493110.1:p.His128Leu | |
ENST00000359688.3:c.383A>T | ENSP00000352717.2:p.His128Leu | |
NM_001005487.1:c.383A>T | NP_001005487.1:p.His128Leu | |
NM_001005487.2:c.383A>T MANE Select | NP_001005487.1:p.His128Leu |