HGVS | Genome Assembly |
---|---|
NC_000017.11:g.8076577T= , CM000679.2:g.8076577T= | GRCh38 |
NC_000017.10:g.7979895T= , CM000679.1:g.7979895T= | GRCh37 |
NC_000017.9:g.7920620T= | NCBI36 |
NG_007099.1:g.16127A= | |
NG_007099.2:g.16140A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647874.1:c.1362+80A= MANE Select | ENSP00000497784.1:n.1362+80A= | |
ENST00000649809.1:c.426+80A= | ENSP00000496845.1:n.426+80A= | |
ENST00000319144.4:c.1362+80A= | ENSP00000315167.4:n.1362+80A= | |
ENST00000577351.5:n.309+80A= | ||
ENST00000583276.5:n.746+80A= | ||
ENST00000584116.1:n.618+80A= | ||
NM_001139.2:c.1362+80A= | NP_001130.1:n.1362+80A= | |
NM_001139.3:c.1362+80A= MANE Select | NP_001130.1:n.1362+80A= |