HGVS | Genome Assembly |
---|---|
NC_000008.11:g.81478482G>T , CM000670.2:g.81478482G>T | GRCh38 |
NC_000008.10:g.82390717G>T , CM000670.1:g.82390717G>T | GRCh37 |
NC_000008.9:g.82553272G>T | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000256104.5:c.*383C>A MANE Select | ENSP00000256104.4:n.*383C>A | |
ENST00000256104.4:c.*383C>A | ENSP00000256104.4:n.*383C>A | |
XR_001745980.1:n.514+16508G>T | ||
NM_001442.3:c.*383C>A MANE Select | NP_001433.1:n.*383C>A |