HGVS | Genome Assembly |
---|---|
NC_000012.12:g.110913239C= , CM000674.2:g.110913239C= | GRCh38 |
NC_000012.11:g.111351043C= , CM000674.1:g.111351043C= | GRCh37 |
NC_000012.10:g.109835426C= | NCBI36 |
NG_007554.1:g.12339G= , LRG_393:g.12339G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000228841.15:c.353+7G= MANE Select | ENSP00000228841.8:n.353+7G= | |
ENST00000663220.1:c.296+7G= | ENSP00000499568.1:n.296+7G= | |
ENST00000228841.12:c.353+7G= | ENSP00000228841.7:n.353+7G= | |
ENST00000548438.1:c.311+7G= | ENSP00000447154.1:n.311+7G= | |
ENST00000549029.1:n.191G= | ||
NM_000432.3:c.353+7G= , LRG_393t1:c.353+7G= | NP_000423.2:n.353+7G= | |
NM_000432.4:c.353+7G= MANE Select | NP_000423.2:n.353+7G= |