HGVS | Genome Assembly |
---|---|
NC_000004.12:g.3518042G= , CM000666.2:g.3518042G= | GRCh38 |
NC_000004.11:g.3519769G= , CM000666.1:g.3519769G= | GRCh37 |
NC_000004.10:g.3489567G= | NCBI36 |
NG_033873.1:g.19456C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648517.1:c.743C= | ENSP00000496947.1:p.Thr248= | |
ENST00000650182.1:c.743C= MANE Select | ENSP00000497444.1:p.Thr248= | |
ENST00000296325.9:n.706C= | ||
ENST00000500728.2:c.743C= | ENSP00000421922.1:p.Thr248= | |
ENST00000509198.1:n.789C= | ||
ENST00000515119.5:c.*520C= | ENSP00000421648.1:n.*520C= | |
NM_002337.3:c.743C= | NP_002328.1:p.Thr248= | |
NR_110005.1:n.706C= | ||
NM_002337.4:c.743C= MANE Select | NP_002328.1:p.Thr248= | |
XR_002959730.1:n.828C= | ||
NR_110005.2:n.706C= |