HGVS | Genome Assembly |
---|---|
NC_000012.12:g.110914082T= , CM000674.2:g.110914082T= | GRCh38 |
NC_000012.11:g.111351886T= , CM000674.1:g.111351886T= | GRCh37 |
NC_000012.10:g.109836269T= | NCBI36 |
NG_007554.1:g.11496A= , LRG_393:g.11496A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000228841.15:c.274+104A= MANE Select | ENSP00000228841.8:n.274+104A= | |
ENST00000663220.1:c.217+104A= | ENSP00000499568.1:n.217+104A= | |
ENST00000228841.12:c.274+104A= | ENSP00000228841.7:n.274+104A= | |
ENST00000548438.1:c.232+104A= | ENSP00000447154.1:n.232+104A= | |
ENST00000549029.1:n.105+104A= | ||
NM_000432.3:c.274+104A= , LRG_393t1:c.274+104A= | NP_000423.2:n.274+104A= | |
NM_000432.4:c.274+104A= MANE Select | NP_000423.2:n.274+104A= |