HGVS | Genome Assembly |
---|---|
NC_000005.10:g.52989370G>C , CM000667.2:g.52989370G>C | GRCh38 |
NC_000005.9:g.52285200G>C , CM000667.1:g.52285200G>C | GRCh37 |
NC_000005.8:g.52320957G>C | NCBI36 |
NG_008330.1:g.5045G>C | |
NG_008330.2:g.5045G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000296585.10:c.-99G>C MANE Select | ENSP00000296585.5:n.-99G>C | |
ENST00000296585.9:c.-99G>C | ENSP00000296585.5:n.-99G>C | |
ENST00000503810.6:c.-99G>C | ENSP00000426489.1:n.-99G>C | |
NM_002203.3:c.-99G>C | NP_002194.2:n.-99G>C | |
NR_073103.1:n.45G>C | ||
NR_073104.1:n.45G>C | ||
NR_073105.1:n.45G>C | ||
NR_073106.1:n.45G>C | ||
NR_073107.1:n.45G>C | ||
NM_002203.4:c.-99G>C MANE Select | NP_002194.2:n.-99G>C | |
NR_073103.2:n.19G>C | ||
NR_073104.2:n.19G>C | ||
NR_073105.2:n.19G>C | ||
NR_073106.2:n.19G>C | ||
NR_073107.2:n.19G>C |