HGVS | Genome Assembly |
---|---|
NC_000022.11:g.43930041C= , CM000684.2:g.43930041C= | GRCh38 |
NC_000022.10:g.44325921C= , CM000684.1:g.44325921C= | GRCh37 |
NC_000022.9:g.42657254C= | NCBI36 |
NG_008631.1:g.11303C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000216180.8:c.486+1152C= MANE Select | ENSP00000216180.3:n.486+1152C= | |
ENST00000216180.7:c.486+1152C= | ENSP00000216180.3:n.486+1152C= | |
ENST00000406117.6:c.*118+1152C= | ENSP00000384668.2:n.*118+1152C= | |
ENST00000423180.2:c.474+1152C= | ENSP00000397987.2:n.474+1152C= | |
ENST00000478713.1:n.520+1152C= | ||
NM_025225.2:c.486+1152C= | NP_079501.2:n.486+1152C= | |
NM_025225.3:c.486+1152C= MANE Select | NP_079501.2:n.486+1152C= |