HGVS | Genome Assembly |
---|---|
NC_000001.11:g.55063537T>C , CM000663.2:g.55063537T>C | GRCh38 |
NC_000001.10:g.55529210T>C , CM000663.1:g.55529210T>C | GRCh37 |
NC_000001.9:g.55301798T>C | NCBI36 |
NG_009061.1:g.28991T>C , LRG_275:g.28991T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000673913.2:c.*372T>C | ENSP00000501161.2:n.*372T>C | |
ENST00000710286.1:c.2389T>C | ENSP00000518176.1:p.Cys797Arg | |
ENST00000673903.1:c.1657T>C | ENSP00000501257.1:p.Cys553Arg | |
ENST00000302118.5:c.2032T>C MANE Select | ENSP00000303208.5:p.Cys678Arg | |
ENST00000490692.1:n.2578T>C | ||
NM_174936.3:c.2032T>C , LRG_275t1:c.2032T>C | NP_777596.2:p.Cys678Arg | |
NR_110451.1:n.1639T>C | ||
XM_011541193.1:c.1153T>C | XP_011539495.1:p.Cys385Arg | |
NM_174936.4:c.2032T>C MANE Select | NP_777596.2:p.Cys678Arg | |
NR_110451.2:n.1639T>C |