HGVS | Genome Assembly |
---|---|
NC_000010.11:g.12107874G>T , CM000672.2:g.12107874G>T | GRCh38 |
NC_000010.10:g.12149873G>T , CM000672.1:g.12149873G>T | GRCh37 |
NC_000010.9:g.12189879G>T | NCBI36 |
NG_033248.1:g.43958G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263035.9:c.2048-35G>T MANE Select | ENSP00000263035.4:n.2048-35G>T | |
ENST00000263035.8:c.2048-35G>T | ENSP00000263035.4:n.2048-35G>T | |
ENST00000448829.1:c.551-35G>T | ||
NM_018706.6:c.2048-35G>T | NP_061176.3:n.2048-35G>T | |
NM_018706.7:c.2048-35G>T MANE Select | NP_061176.4:n.2048-35G>T |