HGVS | Genome Assembly |
---|---|
NC_000006.12:g.158192007C>T , CM000668.2:g.158192007C>T | GRCh38 |
NC_000006.11:g.158613039C>T , CM000668.1:g.158613039C>T | GRCh37 |
NC_000006.10:g.158533027C>T | NCBI36 |
NG_011758.1:g.28661C>T , LRG_469:g.28661C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684993.1:n.125C>T | ||
ENST00000689018.1:n.41-1203C>T | ||
ENST00000689809.1:c.66C>T | ENSP00000510752.1:p.Tyr22= | |
ENST00000691867.1:c.66C>T | ENSP00000510706.1:p.Tyr22= | |
ENST00000607778.2:c.66C>T MANE Select | ENSP00000476100.1:p.Tyr22= | |
ENST00000648328.1:c.*31C>T | ENSP00000497338.1:n.*31C>T | |
ENST00000607778.1:c.66C>T | ENSP00000476100.1:p.Tyr22= | |
NM_207118.2:c.66C>T , LRG_469t1:c.66C>T | NP_997001.1:p.Tyr22= | |
XM_017010862.1:c.96C>T | XP_016866351.1:p.Tyr32= | |
NM_207118.3:c.66C>T MANE Select | NP_997001.1:p.Tyr22= |