HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38408957A>T , CM000685.2:g.38408957A>T | GRCh38 |
NC_000023.10:g.38268210A>T , CM000685.1:g.38268210A>T | GRCh37 |
NC_000023.9:g.38153154A>T | NCBI36 |
NG_008471.1:g.61475A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000039007.5:c.799A>T MANE Select | ENSP00000039007.4:p.Ser267Cys | |
ENST00000643344.1:c.*549A>T | ENSP00000496606.1:n.*549A>T | |
ENST00000039007.4:c.799A>T | ENSP00000039007.4:p.Ser267Cys | |
ENST00000465127.1:c.172-257164A>T | ENSP00000417050.1:n.172-257164A>T | |
NM_000531.5:c.799A>T | NP_000522.3:p.Ser267Cys | |
XM_017029556.1:c.799A>T | XP_016885045.1:p.Ser267Cys | |
NM_000531.6:c.799A>T MANE Select | NP_000522.3:p.Ser267Cys |