HGVS | Genome Assembly |
---|---|
NC_000013.11:g.27924702G>C , CM000675.2:g.27924702G>C | GRCh38 |
NC_000013.10:g.28498839G>C , CM000675.1:g.28498839G>C | GRCh37 |
NC_000013.9:g.27396839G>C | NCBI36 |
NG_008183.1:g.9672G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000381033.5:c.*1G>C MANE Select | ENSP00000370421.4:n.*1G>C | |
ENST00000381033.4:c.*1G>C | ENSP00000370421.4:n.*1G>C | |
NM_000209.3:c.*1G>C | NP_000200.1:n.*1G>C | |
NM_000209.4:c.*1G>C MANE Select | NP_000200.1:n.*1G>C |