HGVS | Genome Assembly |
---|---|
NC_000002.12:g.46385794T>C , CM000664.2:g.46385794T>C | GRCh38 |
NC_000002.11:g.46612933T>C , CM000664.1:g.46612933T>C | GRCh37 |
NC_000002.10:g.46466437T>C | NCBI36 |
NG_016000.1:g.93393T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000263734.5:c.*1134T>C MANE Select | ENSP00000263734.3:n.*1134T>C | |
ENST00000263734.4:c.*1134T>C | ENSP00000263734.3:n.*1134T>C | |
ENST00000466465.5:n.2720T>C | ||
NM_001430.4:c.*1134T>C | NP_001421.2:n.*1134T>C | |
XM_011532698.1:c.*1134T>C | XP_011531000.1:n.*1134T>C | |
XM_011532698.2:c.*1134T>C | XP_011531000.1:n.*1134T>C | |
NM_001430.5:c.*1134T>C MANE Select | NP_001421.2:n.*1134T>C |