Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118312659T= , CM000673.2:g.118312659T= | GRCh38 |
| NC_000011.9:g.118183374T= , CM000673.1:g.118183374T= | GRCh37 |
| NC_000011.8:g.117688584T= | NCBI36 |
| NG_007383.1:g.13080T= , LRG_38:g.13080T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361763.9:c.145T= MANE Select | ENSP00000354566.4:p.Cys49= | |
| ENST00000361763.8:c.145T= | ENSP00000354566.4:p.Cys49= | |
| ENST00000526146.5:n.691T= | ||
| ENST00000528435.5:n.698T= | ||
| ENST00000528600.1:c.127T= | ENSP00000433975.1:p.Cys43= | |
| ENST00000529713.5:n.251T= | ||
| ENST00000531913.1:n.516T= | ||
| NM_000733.3:c.145T= , LRG_38t1:c.145T= | NP_000724.1:p.Cys49= | |
| NM_000733.4:c.145T= MANE Select | NP_000724.1:p.Cys49= |