HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48505024C= , CM000677.2:g.48505024C= | GRCh38 |
NC_000015.9:g.48797221C= , CM000677.1:g.48797221C= | GRCh37 |
NC_000015.8:g.46584513C= | NCBI36 |
NG_008805.2:g.145765G= , LRG_778:g.145765G= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000559133.6:c.1960+1G= | ENSP00000453958.2:n.1960+1G= | |
ENST00000674301.2:c.1960+1G= | ENSP00000501333.2:n.1960+1G= | |
ENST00000684448.1:n.634+1G= | ||
ENST00000316623.10:c.1960+1G= MANE Select | ENSP00000325527.5:n.1960+1G= | |
ENST00000316623.9:c.1960+1G= | ENSP00000325527.5:n.1960+1G= | |
ENST00000537463.6:c.637-30374G= | ENSP00000440294.2:n.637-30374G= | |
NM_000138.4:c.1960+1G= , LRG_778t1:c.1960+1G= | NP_000129.3:n.1960+1G= | |
NM_000138.5:c.1960+1G= MANE Select | NP_000129.3:n.1960+1G= |