HGVS | Genome Assembly |
---|---|
NC_000007.14:g.128248790C>A , CM000669.2:g.128248790C>A | GRCh38 |
NC_000007.13:g.127888843C>A , CM000669.1:g.127888843C>A | GRCh37 |
NC_000007.12:g.127676079C>A | NCBI36 |
NG_007450.1:g.12513C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000308868.5:c.-28-3201C>A MANE Select | ENSP00000312652.4:n.-28-3201C>A | |
ENST00000308868.4:c.-28-3201C>A | ENSP00000312652.4:n.-28-3201C>A | |
NM_000230.2:c.-28-3201C>A | NP_000221.1:n.-28-3201C>A | |
XM_005250340.3:c.-28-3201C>A | XP_005250397.1:n.-28-3201C>A | |
XM_005250340.5:c.-28-3201C>A | XP_005250397.1:n.-28-3201C>A | |
NM_000230.3:c.-28-3201C>A MANE Select | NP_000221.1:n.-28-3201C>A |