Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98542009T= , CM000671.2:g.98542009T= | GRCh38 |
| NC_000009.11:g.101304291T= , CM000671.1:g.101304291T= | GRCh37 |
| NC_000009.10:g.100344112T= | NCBI36 |
| NG_016426.1:g.172189A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.494A= MANE Select | ENSP00000259455.2:p.Asp165= | |
| ENST00000637410.1:n.272A= | ||
| ENST00000637717.1:c.110A= | ENSP00000490789.1:p.Asp37= | |
| ENST00000259455.3:c.494A= | ENSP00000259455.2:p.Asp165= | |
| ENST00000477471.1:n.281A= | ||
| ENST00000634227.1:n.268A= | ||
| NM_005458.7:c.494A= | NP_005449.5:p.Asp165= | |
| XM_017015331.2:c.200A= | XP_016870820.1:p.Asp67= | |
| NM_005458.8:c.494A= MANE Select | NP_005449.5:p.Asp165= |