Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94780508G= , CM000672.2:g.94780508G= | GRCh38 |
| NC_000010.10:g.96540265G= , CM000672.1:g.96540265G= | GRCh37 |
| NC_000010.9:g.96530255G= | NCBI36 |
| NG_008384.2:g.22803G= | |
| NG_008384.3:g.22828G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371321.9:c.491G= MANE Select | ENSP00000360372.3:p.Cys164= | |
| ENST00000645461.1:n.1544G= | ||
| ENST00000371321.7:c.491G= | ENSP00000360372.3:p.Cys164= | |
| ENST00000464755.1:c.1254G= | ENSP00000483243.1:n.1254G= | |
| NM_000769.2:c.491G= | NP_000760.1:p.Cys164= | |
| NM_000769.4:c.491G= MANE Select | NP_000760.1:p.Cys164= |