HGVS | Genome Assembly |
---|---|
NC_000017.11:g.8012031A>G , CM000679.2:g.8012031A>G | GRCh38 |
NC_000017.10:g.7915349A>G , CM000679.1:g.7915349A>G | GRCh37 |
NC_000017.9:g.7856074A>G | NCBI36 |
NG_009092.1:g.14362A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000254854.5:c.1750-113A>G MANE Select | ENSP00000254854.4:n.1750-113A>G | |
ENST00000254854.4:c.1750-113A>G | ENSP00000254854.4:n.1750-113A>G | |
NM_000180.3:c.1750-113A>G | NP_000171.1:n.1750-113A>G | |
XM_011523816.1:c.1750-113A>G | XP_011522118.1:n.1750-113A>G | |
NM_000180.4:c.1750-113A>G MANE Select | NP_000171.1:n.1750-113A>G |