HGVS | Genome Assembly |
---|---|
NC_000017.11:g.44379681G= , CM000679.2:g.44379681G= | GRCh38 |
NC_000017.10:g.42457049G= , CM000679.1:g.42457049G= | GRCh37 |
NC_000017.9:g.39812575G= | NCBI36 |
NG_008331.1:g.14825C= , LRG_479:g.14825C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000262407.6:c.1878+8C= MANE Select | ENSP00000262407.5:n.1878+8C= | |
ENST00000648408.1:c.1309+8C= | ||
ENST00000262407.5:c.1878+8C= | ENSP00000262407.5:n.1878+8C= | |
ENST00000592462.5:n.673+8C= | ||
NM_000419.3:c.1878+8C= , LRG_479t1:c.1878+8C= | NP_000410.2:n.1878+8C= | |
XM_011524749.1:c.1878+8C= | XP_011523051.1:n.1878+8C= | |
XM_011524750.1:c.1878+8C= | XP_011523052.1:n.1878+8C= | |
NM_000419.4:c.1878+8C= | NP_000410.2:n.1878+8C= | |
NM_000419.5:c.1878+8C= MANE Select | NP_000410.2:n.1878+8C= |