HGVS | Genome Assembly |
---|---|
NC_000008.11:g.81478690T>G , CM000670.2:g.81478690T>G | GRCh38 |
NC_000008.10:g.82390925T>G , CM000670.1:g.82390925T>G | GRCh37 |
NC_000008.9:g.82553480T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000256104.5:c.*175A>C MANE Select | ENSP00000256104.4:n.*175A>C | |
ENST00000256104.4:c.*175A>C | ENSP00000256104.4:n.*175A>C | |
ENST00000518669.5:n.509A>C | ||
NM_001442.2:c.*175A>C | NP_001433.1:n.*175A>C | |
XR_001745980.1:n.514+16716T>G | ||
NM_001442.3:c.*175A>C MANE Select | NP_001433.1:n.*175A>C |