HGVS | Genome Assembly |
---|---|
NC_000011.10:g.32435466G>A , CM000673.2:g.32435466G>A | GRCh38 |
NC_000011.9:g.32457012G>A , CM000673.1:g.32457012G>A | GRCh37 |
NC_000011.8:g.32413588G>A | NCBI36 |
NG_009272.1:g.5076C>T , LRG_525:g.5076C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000332351.9:c.-106C>T | ENSP00000331327.5:n.-106C>T | |
ENST00000379077.9:c.-106C>T | ENSP00000368368.5:n.-106C>T | |
ENST00000448076.9:c.-106C>T | ENSP00000413452.5:n.-106C>T | |
ENST00000452863.10:c.-106C>T MANE Select | ENSP00000415516.5:n.-106C>T | |
ENST00000332351.7:c.-121C>T | ENSP00000331327.3:n.-121C>T | |
ENST00000448076.7:c.-121C>T | ENSP00000413452.3:n.-121C>T | |
NM_000378.4:c.-121C>T | NP_000369.3:n.-121C>T | |
NM_024424.3:c.-121C>T | NP_077742.2:n.-121C>T | |
NM_024426.4:c.-121C>T | NP_077744.3:n.-121C>T | |
NM_000378.5:c.-106C>T | NP_000369.4:n.-106C>T | |
NM_024424.4:c.-106C>T | NP_077742.3:n.-106C>T | |
NM_024426.5:c.-106C>T | NP_077744.4:n.-106C>T | |
NR_160306.1:n.74C>T | ||
NM_000378.6:c.-106C>T | NP_000369.4:n.-106C>T | |
NM_024424.5:c.-106C>T | NP_077742.3:n.-106C>T | |
NM_024426.6:c.-106C>T MANE Select | NP_077744.4:n.-106C>T |