Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.97040009A>T , CM000672.2:g.97040009A>T | GRCh38 |
| NC_000010.10:g.98799766A>T , CM000672.1:g.98799766A>T | GRCh37 |
| NC_000010.9:g.98789756A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003061.3:c.2276T>A MANE Select | NP_003052.2:p.Ile759Asn |
| ENST00000266058.9:c.2276T>A MANE Select | ENSP00000266058.4:p.Ile759Asn |
| NM_003061.2:c.2276T>A | NP_003052.2:p.Ile759Asn |
| ENST00000266058.8:c.2276T>A | ENSP00000266058.4:p.Ile759Asn |
| ENST00000314867.9:c.2255T>A | ENSP00000315005.5:p.Ile752Asn |
| ENST00000371070.8:c.2276T>A | ENSP00000360109.4:p.Ile759Asn |