HGVS | Genome Assembly |
---|---|
NC_000013.11:g.28659151C>G , CM000675.2:g.28659151C>G | GRCh38 |
NC_000013.10:g.29233288C>G , CM000675.1:g.29233288C>G | GRCh37 |
NC_000013.9:g.28131288C>G | NCBI36 |
NG_027550.1:g.5148C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000697716.1:c.-119C>G | ENSP00000513414.1:n.-119C>G | |
ENST00000697717.1:c.-34C>G | ENSP00000513415.1:n.-34C>G | |
ENST00000697718.1:c.-34C>G | ENSP00000513416.1:n.-34C>G | |
ENST00000380842.5:c.-34C>G MANE Select | ENSP00000370222.4:n.-34C>G | |
ENST00000380842.4:c.-34C>G | ENSP00000370222.4:n.-34C>G | |
ENST00000460403.1:n.48C>G | ||
NM_015932.5:c.-34C>G | NP_057016.1:n.-34C>G | |
NM_015932.6:c.-34C>G MANE Select | NP_057016.1:n.-34C>G |