HGVS | Genome Assembly |
---|---|
NC_000011.10:g.118312738T>C , CM000673.2:g.118312738T>C | GRCh38 |
NC_000011.9:g.118183453T>C , CM000673.1:g.118183453T>C | GRCh37 |
NC_000011.8:g.117688663T>C | NCBI36 |
NG_007383.1:g.13159T>C , LRG_38:g.13159T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361763.9:c.224T>C MANE Select | ENSP00000354566.4:p.Ile75Thr | |
ENST00000361763.8:c.224T>C | ENSP00000354566.4:p.Ile75Thr | |
ENST00000526146.5:n.770T>C | ||
ENST00000528435.5:n.777T>C | ||
ENST00000528600.1:c.206T>C | ENSP00000433975.1:p.Ile69Thr | |
ENST00000529713.5:n.330T>C | ||
ENST00000531913.1:n.595T>C | ||
NM_000733.3:c.224T>C , LRG_38t1:c.224T>C | NP_000724.1:p.Ile75Thr | |
NM_000733.4:c.224T>C MANE Select | NP_000724.1:p.Ile75Thr |