HGVS | Genome Assembly |
---|---|
NC_000004.12:g.4862654A>T , CM000666.2:g.4862654A>T | GRCh38 |
NC_000004.11:g.4864381A>T , CM000666.1:g.4864381A>T | GRCh37 |
NC_000004.10:g.4915282A>T | NCBI36 |
NG_008121.1:g.7990A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382723.5:c.470-47A>T MANE Select | ENSP00000372170.4:n.470-47A>T | |
ENST00000382723.4:c.470-47A>T | ENSP00000372170.4:n.470-47A>T | |
ENST00000468421.1:n.182-47A>T | ||
NM_002448.3:c.470-47A>T MANE Select | NP_002439.2:n.470-47A>T |