Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129814195T= , CM000671.2:g.129814195T= | GRCh38 |
| NC_000009.11:g.132576474T= , CM000671.1:g.132576474T= | GRCh37 |
| NC_000009.10:g.131616295T= | NCBI36 |
| NG_008049.1:g.14968A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.776A= MANE Select | ENSP00000345719.4:p.Asp259= | |
| ENST00000651202.1:c.*44A= | ENSP00000498222.1:n.*44A= | |
| ENST00000351698.4:c.776A= | ENSP00000345719.4:p.Asp259= | |
| ENST00000474192.1:n.360A= | ||
| NM_000113.2:c.776A= | NP_000104.1:p.Asp259= | |
| XR_929731.1:n.1103A= | ||
| XR_929731.3:n.971A= | ||
| NM_000113.3:c.776A= MANE Select | NP_000104.1:p.Asp259= |