HGVS | Genome Assembly |
---|---|
NC_000005.10:g.14871670C>G , CM000667.2:g.14871670C>G | GRCh38 |
NC_000005.9:g.14871779C>G , CM000667.1:g.14871779C>G | GRCh37 |
NC_000005.8:g.14924779C>G | NCBI36 |
NG_008273.1:g.5109G>C | |
NG_008273.2:g.5116G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000284268.8:c.-223G>C MANE Select | ENSP00000284268.6:n.-223G>C | |
ENST00000284268.6:c.-223G>C | ENSP00000284268.6:n.-223G>C | |
ENST00000505140.1:c.-223G>C | ENSP00000426332.1:n.-223G>C | |
NM_054027.4:c.-223G>C | NP_473368.1:n.-223G>C | |
XM_011514067.1:c.-223G>C | XP_011512369.1:n.-223G>C | |
NM_054027.5:c.-223G>C | NP_473368.1:n.-223G>C | |
NM_054027.6:c.-223G>C MANE Select | NP_473368.1:n.-223G>C |