HGVS | Genome Assembly |
---|---|
NC_000008.11:g.81478618T= , CM000670.2:g.81478618T= | GRCh38 |
NC_000008.10:g.82390853T= , CM000670.1:g.82390853T= | GRCh37 |
NC_000008.9:g.82553408T= | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000256104.5:c.*247A= MANE Select | ENSP00000256104.4:n.*247A= | |
ENST00000256104.4:c.*247A= | ENSP00000256104.4:n.*247A= | |
NM_001442.2:c.*247A= | NP_001433.1:n.*247A= | |
XR_001745980.1:n.514+16644T= | ||
NM_001442.3:c.*247A= MANE Select | NP_001433.1:n.*247A= |