HGVS | Genome Assembly |
---|---|
NC_000012.12:g.110914294G= , CM000674.2:g.110914294G= | GRCh38 |
NC_000012.11:g.111352098G= , CM000674.1:g.111352098G= | GRCh37 |
NC_000012.10:g.109836481G= | NCBI36 |
NG_007554.1:g.11284C= , LRG_393:g.11284C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000228841.15:c.170-4C= MANE Select | ENSP00000228841.8:n.170-4C= | |
ENST00000663220.1:c.113-4C= | ENSP00000499568.1:n.113-4C= | |
ENST00000228841.12:c.170-4C= | ENSP00000228841.7:n.170-4C= | |
ENST00000548438.1:c.124C= | ENSP00000447154.1:p.Leu42= | |
NM_000432.3:c.170-4C= , LRG_393t1:c.170-4C= | NP_000423.2:n.170-4C= | |
NM_000432.4:c.170-4C= MANE Select | NP_000423.2:n.170-4C= |