HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41583186C>T , CM000679.2:g.41583186C>T | GRCh38 |
NC_000017.10:g.39739438C>T , CM000679.1:g.39739438C>T | GRCh37 |
NC_000017.9:g.36992964C>T | NCBI36 |
NG_008624.1:g.8710G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000167586.7:c.1275-46G>A MANE Select | ENSP00000167586.6:n.1275-46G>A | |
ENST00000167586.6:c.1275-46G>A | ENSP00000167586.6:n.1275-46G>A | |
ENST00000441550.2:n.222-46G>A | ||
NM_000526.4:c.1275-46G>A | NP_000517.2:n.1275-46G>A | |
NM_000526.5:c.1275-46G>A MANE Select | NP_000517.3:n.1275-46G>A |