HGVS | Genome Assembly |
---|---|
NC_000011.10:g.118312647G>C , CM000673.2:g.118312647G>C | GRCh38 |
NC_000011.9:g.118183362G>C , CM000673.1:g.118183362G>C | GRCh37 |
NC_000011.8:g.117688572G>C | NCBI36 |
NG_007383.1:g.13068G>C , LRG_38:g.13068G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361763.9:c.133G>C MANE Select | ENSP00000354566.4:p.Val45Leu | |
ENST00000361763.8:c.133G>C | ENSP00000354566.4:p.Val45Leu | |
ENST00000526146.5:n.679G>C | ||
ENST00000528435.5:n.686G>C | ||
ENST00000528600.1:c.115G>C | ENSP00000433975.1:p.Val39Leu | |
ENST00000529713.5:n.239G>C | ||
ENST00000531913.1:n.504G>C | ||
NM_000733.3:c.133G>C , LRG_38t1:c.133G>C | NP_000724.1:p.Val45Leu | |
NM_000733.4:c.133G>C MANE Select | NP_000724.1:p.Val45Leu |