HGVS | Genome Assembly |
---|---|
NC_000011.10:g.116832850C>T , CM000673.2:g.116832850C>T | GRCh38 |
NC_000011.9:g.116703566C>T , CM000673.1:g.116703566C>T | GRCh37 |
NC_000011.8:g.116208776C>T | NCBI36 |
NG_008949.1:g.7943C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000227667.8:c.266C>T MANE Select | ENSP00000227667.2:p.Pro89Leu | |
ENST00000227667.7:c.266C>T | ENSP00000227667.2:p.Pro89Leu | |
ENST00000375345.3:c.320C>T | ENSP00000364494.1:p.Pro107Leu | |
ENST00000630701.1:c.320C>T | ENSP00000486182.1:p.Pro107Leu | |
NM_000040.1:c.266C>T | NP_000031.1:p.Pro89Leu | |
NM_000040.2:c.266C>T | NP_000031.1:p.Pro89Leu | |
NM_000040.3:c.266C>T MANE Select | NP_000031.1:p.Pro89Leu |