HGVS | Genome Assembly |
---|---|
NC_000008.11:g.81478554C>A , CM000670.2:g.81478554C>A | GRCh38 |
NC_000008.10:g.82390789C>A , CM000670.1:g.82390789C>A | GRCh37 |
NC_000008.9:g.82553344C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000256104.5:c.*311G>T MANE Select | ENSP00000256104.4:n.*311G>T | |
ENST00000256104.4:c.*311G>T | ENSP00000256104.4:n.*311G>T | |
NM_001442.2:c.*311G>T | NP_001433.1:n.*311G>T | |
XR_001745980.1:n.514+16580C>A | ||
NM_001442.3:c.*311G>T MANE Select | NP_001433.1:n.*311G>T |