HGVS | Genome Assembly |
---|---|
NC_000019.10:g.5903934C>A , CM000681.2:g.5903934C>A | GRCh38 |
NC_000019.9:g.5903945C>A , CM000681.1:g.5903945C>A | GRCh37 |
NC_000019.8:g.5854945C>A | NCBI36 |
NG_027808.1:g.5080G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000591160.1:n.73G>T | ||
NM_001193375.1:c.-226G>T | NP_001180304.1:n.-226G>T | |
NM_175614.4:c.-226G>T | NP_783313.1:n.-226G>T | |
NR_034166.2:n.80G>T |