HGVS | Genome Assembly |
---|---|
NC_000006.12:g.158192008T>C , CM000668.2:g.158192008T>C | GRCh38 |
NC_000006.11:g.158613040T>C , CM000668.1:g.158613040T>C | GRCh37 |
NC_000006.10:g.158533028T>C | NCBI36 |
NG_011758.1:g.28662T>C , LRG_469:g.28662T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000684993.1:n.126T>C | ||
ENST00000689018.1:n.41-1202T>C | ||
ENST00000689809.1:c.67T>C | ENSP00000510752.1:p.Leu23= | |
ENST00000691867.1:c.67T>C | ENSP00000510706.1:p.Leu23= | |
ENST00000607778.2:c.67T>C MANE Select | ENSP00000476100.1:p.Leu23= | |
ENST00000648328.1:c.*32T>C | ENSP00000497338.1:n.*32T>C | |
ENST00000607778.1:c.67T>C | ENSP00000476100.1:p.Leu23= | |
NM_207118.2:c.67T>C , LRG_469t1:c.67T>C | NP_997001.1:p.Leu23= | |
XM_017010862.1:c.97T>C | XP_016866351.1:p.Leu33= | |
NM_207118.3:c.67T>C MANE Select | NP_997001.1:p.Leu23= |