HGVS | Genome Assembly |
---|---|
NC_000015.10:g.42958036G>T , CM000677.2:g.42958036G>T | GRCh38 |
NC_000015.9:g.43250234G>T , CM000677.1:g.43250234G>T | GRCh37 |
NC_000015.8:g.41037526G>T | NCBI36 |
NG_012182.1:g.153053C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000290650.9:c.4812C>A MANE Select | ENSP00000290650.4:p.Leu1604= | |
ENST00000290650.8:c.4812C>A | ENSP00000290650.4:p.Leu1604= | |
NM_174916.2:c.4812C>A | NP_777576.1:p.Leu1604= | |
NM_174916.3:c.4812C>A MANE Select | NP_777576.1:p.Leu1604= |