HGVS | Genome Assembly |
---|---|
NC_000015.10:g.73330008G>C , CM000677.2:g.73330008G>C | GRCh38 |
NC_000015.9:g.73622349G>C , CM000677.1:g.73622349G>C | GRCh37 |
NC_000015.8:g.71409402G>C | NCBI36 |
NG_009063.1:g.44257C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261917.4:c.1372-217C>G MANE Select | ENSP00000261917.3:n.1372-217C>G | |
ENST00000261917.3:c.1372-217C>G | ENSP00000261917.3:n.1372-217C>G | |
NM_005477.2:c.1372-217C>G | NP_005468.1:n.1372-217C>G | |
XM_011521148.1:c.154-217C>G | XP_011519450.1:n.154-217C>G | |
XM_011521148.2:c.154-217C>G | XP_011519450.1:n.154-217C>G | |
NM_005477.3:c.1372-217C>G MANE Select | NP_005468.1:n.1372-217C>G |