HGVS | Genome Assembly |
---|---|
NC_000019.10:g.18787965G= , CM000681.2:g.18787965G= | GRCh38 |
NC_000019.9:g.18898774G= , CM000681.1:g.18898774G= | GRCh37 |
NC_000019.8:g.18759774G= | NCBI36 |
NG_007070.1:g.8341C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000222271.7:c.975+247C= MANE Select | ENSP00000222271.2:n.975+247C= | |
ENST00000222271.6:c.975+247C= | ENSP00000222271.2:n.975+247C= | |
ENST00000425807.1:c.816+247C= | ENSP00000403792.1:n.816+247C= | |
ENST00000542601.6:c.876+247C= | ENSP00000439156.2:n.876+247C= | |
NM_000095.2:c.975+247C= | NP_000086.2:n.975+247C= | |
NM_000095.3:c.975+247C= MANE Select | NP_000086.2:n.975+247C= |