HGVS | Genome Assembly |
---|---|
NC_000001.11:g.94001835G= , CM000663.2:g.94001835G= | GRCh38 |
NC_000001.10:g.94467391G= , CM000663.1:g.94467391G= | GRCh37 |
NC_000001.9:g.94239979G= | NCBI36 |
NG_009073.1:g.124315C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000370225.4:c.6282+23C= MANE Select | ENSP00000359245.3:n.6282+23C= | |
ENST00000370225.3:c.6282+23C= | ENSP00000359245.3:n.6282+23C= | |
ENST00000465352.1:n.721C= | ||
ENST00000536513.5:c.2658+23C= | ENSP00000439707.2:n.2658+23C= | |
NM_000350.2:c.6282+23C= | NP_000341.2:n.6282+23C= | |
NM_000350.3:c.6282+23C= MANE Select | NP_000341.2:n.6282+23C= |