HGVS | Genome Assembly |
---|---|
NC_000007.14:g.5603431A= , CM000669.2:g.5603431A= | GRCh38 |
NC_000007.13:g.5643062A= , CM000669.1:g.5643062A= | GRCh37 |
NC_000007.12:g.5609588A= | NCBI36 |
NG_030004.1:g.15627A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382361.8:c.989+18A= MANE Select | ENSP00000371798.3:n.989+18A= | |
ENST00000382361.7:c.989+18A= | ENSP00000371798.3:n.989+18A= | |
ENST00000405801.2:c.155+18A= | ENSP00000383982.2:n.155+18A= | |
ENST00000444748.5:c.155+18A= | ENSP00000404506.1:n.155+18A= | |
ENST00000447103.5:c.155+18A= | ENSP00000409967.1:n.155+18A= | |
ENST00000473330.1:n.542+18A= | ||
NM_003088.3:c.989+18A= | NP_003079.1:n.989+18A= | |
NM_003088.4:c.989+18A= MANE Select | NP_003079.1:n.989+18A= |