HGVS | Genome Assembly |
---|---|
NC_000016.10:g.2278026C>A , CM000678.2:g.2278026C>A | GRCh38 |
NC_000016.9:g.2328027C>A , CM000678.1:g.2328027C>A | GRCh37 |
NC_000016.8:g.2268028C>A | NCBI36 |
NG_011790.1:g.67721G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000301732.10:c.4762G>T MANE Select | ENSP00000301732.5:p.Val1588Leu | |
ENST00000301732.9:c.4762G>T | ENSP00000301732.5:p.Val1588Leu | |
ENST00000382381.7:c.4588G>T | ENSP00000371818.3:p.Val1530Leu | |
NM_001089.2:c.4762G>T | NP_001080.2:p.Val1588Leu | |
NM_001089.3:c.4762G>T MANE Select | NP_001080.2:p.Val1588Leu |