HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7528345G>C , CM000681.2:g.7528345G>C | GRCh38 |
NC_000019.9:g.7593231G>C , CM000681.1:g.7593231G>C | GRCh37 |
NC_000019.8:g.7499231G>C | NCBI36 |
NG_015806.1:g.10736G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264079.11:c.877+88G>C MANE Select | ENSP00000264079.5:n.877+88G>C | |
ENST00000264079.10:c.877+88G>C | ENSP00000264079.5:n.877+88G>C | |
ENST00000394321.9:n.1192+88G>C | ||
NM_020533.2:c.877+88G>C | NP_065394.1:n.877+88G>C | |
NM_020533.3:c.877+88G>C MANE Select | NP_065394.1:n.877+88G>C |