HGVS | Genome Assembly |
---|---|
NC_000011.10:g.118312644A>T , CM000673.2:g.118312644A>T | GRCh38 |
NC_000011.9:g.118183359A>T , CM000673.1:g.118183359A>T | GRCh37 |
NC_000011.8:g.117688569A>T | NCBI36 |
NG_007383.1:g.13065A>T , LRG_38:g.13065A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361763.9:c.130A>T MANE Select | ENSP00000354566.4:p.Thr44Ser | |
ENST00000361763.8:c.130A>T | ENSP00000354566.4:p.Thr44Ser | |
ENST00000526146.5:n.676A>T | ||
ENST00000528435.5:n.683A>T | ||
ENST00000528600.1:c.112A>T | ENSP00000433975.1:p.Thr38Ser | |
ENST00000529713.5:n.236A>T | ||
ENST00000531913.1:n.501A>T | ||
NM_000733.3:c.130A>T , LRG_38t1:c.130A>T | NP_000724.1:p.Thr44Ser | |
NM_000733.4:c.130A>T MANE Select | NP_000724.1:p.Thr44Ser |