HGVS | Genome Assembly |
---|---|
NC_000011.10:g.116832769G>T , CM000673.2:g.116832769G>T | GRCh38 |
NC_000011.9:g.116703485G>T , CM000673.1:g.116703485G>T | GRCh37 |
NC_000011.8:g.116208695G>T | NCBI36 |
NG_008949.1:g.7862G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000227667.8:c.185G>T MANE Select | ENSP00000227667.2:p.Trp62Leu | |
ENST00000227667.7:c.185G>T | ENSP00000227667.2:p.Trp62Leu | |
ENST00000375345.3:c.239G>T | ENSP00000364494.1:p.Trp80Leu | |
ENST00000630701.1:c.239G>T | ENSP00000486182.1:p.Trp80Leu | |
NM_000040.1:c.185G>T | NP_000031.1:p.Trp62Leu | |
NM_000040.2:c.185G>T | NP_000031.1:p.Trp62Leu | |
NM_000040.3:c.185G>T MANE Select | NP_000031.1:p.Trp62Leu |