Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133352719T= , CM000671.2:g.133352719T= | GRCh38 |
| NC_000009.10:g.135209395T= | NCBI36 |
| NG_008477.1:g.8788A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003172.4:c.563A= MANE Select | NP_003163.1:p.Asn188= |
| ENST00000371974.8:c.563A= MANE Select | ENSP00000361042.3:p.Asn188= |
| NM_001280787.1:c.236A= | NP_001267716.1:p.Asn79= |
| NM_003172.3:c.563A= | NP_003163.1:p.Asn188= |
| ENST00000371974.7:c.563A= | ENSP00000361042.3:p.Asn188= |
| ENST00000437995.1:n.473A= | |
| ENST00000495952.5:n.553A= | |
| ENST00000615505.4:c.236A= | ENSP00000482067.1:p.Asn79= |
| XM_011518942.1:c.236A= | XP_011517244.1:p.Asn79= |