HGVS | Genome Assembly |
---|---|
NC_000011.10:g.116832771del , CM000673.2:g.116832771del | GRCh38 |
NC_000011.9:g.116703487del , CM000673.1:g.116703487del | GRCh37 |
NC_000011.8:g.116208697del | NCBI36 |
NG_008949.1:g.7864del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000227667.8:c.187del MANE Select | ENSP00000227667.2:p.Val63Ter | |
ENST00000227667.7:c.187del | ENSP00000227667.2:p.Val63Ter | |
ENST00000375345.3:c.241del | ENSP00000364494.1:p.Val81Ter | |
ENST00000630701.1:c.241del | ENSP00000486182.1:p.Val81Ter | |
NM_000040.1:c.187del | NP_000031.1:p.Val63Ter | |
NM_000040.2:c.187del | NP_000031.1:p.Val63Ter | |
NM_000040.3:c.187del MANE Select | NP_000031.1:p.Val63Ter |