HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41624560G>A , CM000679.2:g.41624560G>A | GRCh38 |
NC_000017.10:g.39780812G>A , CM000679.1:g.39780812G>A | GRCh37 |
NC_000017.9:g.37034338G>A | NCBI36 |
NG_008625.1:g.5071C>T | |
NG_009090.2:g.167153C>T , LRG_401:g.167153C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000311208.13:c.-51C>T MANE Select | ENSP00000308452.8:n.-51C>T | |
ENST00000311208.12:c.-51C>T | ENSP00000308452.8:n.-51C>T | |
ENST00000463128.5:c.-313+183C>T | ENSP00000468672.1:n.-313+183C>T | |
ENST00000491673.1:n.16C>T | ||
NM_000422.2:c.-51C>T | NP_000413.1:n.-51C>T | |
NM_000422.3:c.-51C>T MANE Select | NP_000413.1:n.-51C>T |