HGVS | Genome Assembly |
---|---|
NC_000007.14:g.128247322A>G , CM000669.2:g.128247322A>G | GRCh38 |
NC_000007.13:g.127887375A>G , CM000669.1:g.127887375A>G | GRCh37 |
NC_000007.12:g.127674611A>G | NCBI36 |
NG_007450.1:g.11045A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000308868.5:c.-28-4669A>G MANE Select | ENSP00000312652.4:n.-28-4669A>G | |
ENST00000308868.4:c.-28-4669A>G | ENSP00000312652.4:n.-28-4669A>G | |
NM_000230.2:c.-28-4669A>G | NP_000221.1:n.-28-4669A>G | |
XM_005250340.3:c.-28-4669A>G | XP_005250397.1:n.-28-4669A>G | |
XM_005250340.5:c.-28-4669A>G | XP_005250397.1:n.-28-4669A>G | |
NM_000230.3:c.-28-4669A>G MANE Select | NP_000221.1:n.-28-4669A>G |