HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4898625C>A , CM000679.2:g.4898625C>A | GRCh38 |
NC_000017.10:g.4801920C>A , CM000679.1:g.4801920C>A | GRCh37 |
NC_000017.9:g.4742699C>A | NCBI36 |
NG_008029.2:g.9451G>T | |
NG_028005.1:g.70286C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000649488.2:c.*111G>T MANE Select | ENSP00000497829.1:n.*111G>T | |
ENST00000649830.1:c.*229G>T | ENSP00000496907.1:n.*229G>T | |
ENST00000652550.1:n.1319G>T | ||
ENST00000293780.4:c.*111G>T | ENSP00000293780.4:n.*111G>T | |
ENST00000572438.1:n.1279G>T | ||
NM_000080.3:c.*111G>T | NP_000071.1:n.*111G>T | |
NM_000080.4:c.*111G>T MANE Select | NP_000071.1:n.*111G>T | |
XM_017024115.1:c.*111G>T | XP_016879604.1:n.*111G>T |