Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118312715C= , CM000673.2:g.118312715C= | GRCh38 |
| NC_000011.9:g.118183430C= , CM000673.1:g.118183430C= | GRCh37 |
| NC_000011.8:g.117688640C= | NCBI36 |
| NG_007383.1:g.13136C= , LRG_38:g.13136C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361763.9:c.201C= MANE Select | ENSP00000354566.4:p.Gly67= | |
| ENST00000361763.8:c.201C= | ENSP00000354566.4:p.Gly67= | |
| ENST00000526146.5:n.747C= | ||
| ENST00000528435.5:n.754C= | ||
| ENST00000528600.1:c.183C= | ENSP00000433975.1:p.Gly61= | |
| ENST00000529713.5:n.307C= | ||
| ENST00000531913.1:n.572C= | ||
| NM_000733.3:c.201C= , LRG_38t1:c.201C= | NP_000724.1:p.Gly67= | |
| NM_000733.4:c.201C= MANE Select | NP_000724.1:p.Gly67= |