HGVS | Genome Assembly |
---|---|
NC_000011.10:g.118312705A>C , CM000673.2:g.118312705A>C | GRCh38 |
NC_000011.9:g.118183420A>C , CM000673.1:g.118183420A>C | GRCh37 |
NC_000011.8:g.117688630A>C | NCBI36 |
NG_007383.1:g.13126A>C , LRG_38:g.13126A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361763.9:c.191A>C MANE Select | ENSP00000354566.4:p.Lys64Thr | |
ENST00000361763.8:c.191A>C | ENSP00000354566.4:p.Lys64Thr | |
ENST00000526146.5:n.737A>C | ||
ENST00000528435.5:n.744A>C | ||
ENST00000528600.1:c.173A>C | ENSP00000433975.1:p.Lys58Thr | |
ENST00000529713.5:n.297A>C | ||
ENST00000531913.1:n.562A>C | ||
NM_000733.3:c.191A>C , LRG_38t1:c.191A>C | NP_000724.1:p.Lys64Thr | |
NM_000733.4:c.191A>C MANE Select | NP_000724.1:p.Lys64Thr |