HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48474527C= , CM000677.2:g.48474527C= | GRCh38 |
NC_000015.9:g.48766724C= , CM000677.1:g.48766724C= | GRCh37 |
NC_000015.8:g.46554016C= | NCBI36 |
NG_008805.2:g.176262G= , LRG_778:g.176262G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.4087+1G= | ENSP00000453958.2:n.4087+1G= | |
ENST00000674301.2:c.4087+1G= | ENSP00000501333.2:n.4087+1G= | |
ENST00000684448.1:n.2761+1G= | ||
ENST00000316623.10:c.4087+1G= MANE Select | ENSP00000325527.5:n.4087+1G= | |
ENST00000316623.9:c.4087+1G= | ENSP00000325527.5:n.4087+1G= | |
ENST00000537463.6:c.759+1G= | ENSP00000440294.2:n.759+1G= | |
NM_000138.4:c.4087+1G= , LRG_778t1:c.4087+1G= | NP_000129.3:n.4087+1G= | |
NM_000138.5:c.4087+1G= MANE Select | NP_000129.3:n.4087+1G= |