Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.155811874G>A , CM000669.2:g.155811874G>A | GRCh38 |
| NC_000007.13:g.155604568G>A , CM000669.1:g.155604568G>A | GRCh37 |
| NC_000007.12:g.155297329G>A | NCBI36 |
| NG_007504.2:g.5400C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297261.7:c.249C>T MANE Select | ENSP00000297261.2:p.Asp83= | |
| ENST00000297261.6:c.249C>T | ENSP00000297261.2:p.Asp83= | |
| NM_000193.2:c.249C>T | NP_000184.1:p.Asp83= | |
| NM_000193.3:c.249C>T | NP_000184.1:p.Asp83= | |
| NM_000193.4:c.249C>T MANE Select | NP_000184.1:p.Asp83= |