HGVS | Genome Assembly |
---|---|
NC_000004.12:g.4862554T>G , CM000666.2:g.4862554T>G | GRCh38 |
NC_000004.11:g.4864281T>G , CM000666.1:g.4864281T>G | GRCh37 |
NC_000004.10:g.4915182T>G | NCBI36 |
NG_008121.1:g.7890T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382723.5:c.470-147T>G MANE Select | ENSP00000372170.4:n.470-147T>G | |
ENST00000382723.4:c.470-147T>G | ENSP00000372170.4:n.470-147T>G | |
ENST00000468421.1:n.127T>G | ||
NM_002448.3:c.470-147T>G MANE Select | NP_002439.2:n.470-147T>G |