HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94782109G>T , CM000672.2:g.94782109G>T | GRCh38 |
NC_000010.10:g.96541866G>T , CM000672.1:g.96541866G>T | GRCh37 |
NC_000010.9:g.96531856G>T | NCBI36 |
NG_008384.2:g.24404G>T | |
NG_008384.3:g.24429G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371321.9:c.819+112G>T MANE Select | ENSP00000360372.3:n.819+112G>T | |
ENST00000645461.1:n.1872+112G>T | ||
ENST00000371321.7:c.819+112G>T | ENSP00000360372.3:n.819+112G>T | |
ENST00000464755.1:c.1582+112G>T | ENSP00000483243.1:n.1582+112G>T | |
NM_000769.2:c.819+112G>T | NP_000760.1:n.819+112G>T | |
NM_000769.4:c.819+112G>T MANE Select | NP_000760.1:n.819+112G>T |