HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19957692T= , CM000670.2:g.19957692T= | GRCh38 |
NC_000008.10:g.19815203T= , CM000670.1:g.19815203T= | GRCh37 |
NC_000008.9:g.19859483T= | NCBI36 |
NG_008855.1:g.23622T= | |
NG_008855.2:g.60976T= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000650287.1:c.1019-1568T= MANE Select | ENSP00000497642.1:n.1019-1568T= | |
ENST00000650478.1:c.79+1609T= | ENSP00000497560.1:n.79+1609T= | |
ENST00000311322.8:c.1019-1568T= | ENSP00000309757.6:n.1019-1568T= | |
NM_000237.2:c.1019-1568T= | NP_000228.1:n.1019-1568T= | |
NM_000237.3:c.1019-1568T= MANE Select | NP_000228.1:n.1019-1568T= |