Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.17129743A= , CM000672.2:g.17129743A= | GRCh38 |
| NC_000010.10:g.17171742A= , CM000672.1:g.17171742A= | GRCh37 |
| NC_000010.9:g.17211748A= | NCBI36 |
| NG_008967.1:g.5075T= , LRG_540:g.5075T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377833.10:c.23T= MANE Select | ENSP00000367064.4:p.Phe8= | |
| ENST00000377823.1:c.23T= | ENSP00000367054.1:p.Phe8= | |
| ENST00000377833.8:c.23T= | ENSP00000367064.4:p.Phe8= | |
| NM_001081.3:c.23T= , LRG_540t1:c.23T= | NP_001072.2:p.Phe8= | |
| XM_011519708.1:c.23T= | XP_011518010.1:p.Phe8= | |
| XM_011519708.2:c.23T= | XP_011518010.1:p.Phe8= | |
| NM_001081.4:c.23T= MANE Select | NP_001072.2:p.Phe8= |