HGVS | Genome Assembly |
---|---|
NC_000024.10:g.2787404A>C , CM000686.2:g.2787404A>C | GRCh38 |
NC_000024.9:g.2655445A>C , CM000686.1:g.2655445A>C | GRCh37 |
NC_000024.8:g.2715445A>C | NCBI36 |
NG_011751.1:g.5348T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000679518.1:n.106+12665A>C | ||
ENST00000679825.1:n.516A>C | ||
ENST00000680285.1:n.320-2345A>C | ||
ENST00000680845.1:n.166-76A>C | ||
ENST00000681787.1:n.106+12665A>C | ||
ENST00000681940.1:n.106+12665A>C | ||
ENST00000383070.2:c.200T>G MANE Select | ENSP00000372547.1:p.Phe67Cys | |
ENST00000383070.1:c.200T>G | ENSP00000372547.1:p.Phe67Cys | |
NM_003140.2:c.200T>G | NP_003131.1:p.Phe67Cys | |
NM_003140.3:c.200T>G MANE Select | NP_003131.1:p.Phe67Cys |