Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98541891G= , CM000671.2:g.98541891G= | GRCh38 |
| NC_000009.11:g.101304173G= , CM000671.1:g.101304173G= | GRCh37 |
| NC_000009.10:g.100343994G= | NCBI36 |
| NG_016426.1:g.172307C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.612C= MANE Select | ENSP00000259455.2:p.Asp204= | |
| ENST00000637410.1:n.390C= | ||
| ENST00000637717.1:c.228C= | ENSP00000490789.1:p.Asp76= | |
| ENST00000259455.3:c.612C= | ENSP00000259455.2:p.Asp204= | |
| ENST00000477471.1:n.399C= | ||
| ENST00000634227.1:n.386C= | ||
| NM_005458.7:c.612C= | NP_005449.5:p.Asp204= | |
| XM_017015331.2:c.318C= | XP_016870820.1:p.Asp106= | |
| NM_005458.8:c.612C= MANE Select | NP_005449.5:p.Asp204= |