Linked Data
gnomAD v4:
11-118312674-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118312674G>C , CM000673.2:g.118312674G>C | GRCh38 |
| NC_000011.9:g.118183389G>C , CM000673.1:g.118183389G>C | GRCh37 |
| NC_000011.8:g.117688599G>C | NCBI36 |
| NG_007383.1:g.13095G>C , LRG_38:g.13095G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361763.9:c.160G>C MANE Select | ENSP00000354566.4:p.Gly54Arg | |
| ENST00000361763.8:c.160G>C | ENSP00000354566.4:p.Gly54Arg | |
| ENST00000526146.5:n.706G>C | ||
| ENST00000528435.5:n.713G>C | ||
| ENST00000528600.1:c.142G>C | ENSP00000433975.1:p.Gly48Arg | |
| ENST00000529713.5:n.266G>C | ||
| ENST00000531913.1:n.531G>C | ||
| NM_000733.3:c.160G>C , LRG_38t1:c.160G>C | NP_000724.1:p.Gly54Arg | |
| NM_000733.4:c.160G>C MANE Select | NP_000724.1:p.Gly54Arg |