HGVS | Genome Assembly |
---|---|
NC_000008.11:g.63072983G>A , CM000670.2:g.63072983G>A | GRCh38 |
NC_000008.10:g.63985542G>A , CM000670.1:g.63985542G>A | GRCh37 |
NC_000008.9:g.64148096G>A | NCBI36 |
NG_016123.1:g.18071C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000260116.5:c.310C>T MANE Select | ENSP00000260116.4:p.Leu104= | |
ENST00000260116.4:c.310C>T | ENSP00000260116.4:p.Leu104= | |
ENST00000521138.1:n.232+12835C>T | ||
NM_000370.3:c.310C>T MANE Select | NP_000361.1:p.Leu104= | |
XM_006716468.2:c.205-8667C>T | XP_006716531.1:n.205-8667C>T | |
XM_006716468.4:c.205-8667C>T | XP_006716531.1:n.205-8667C>T |