Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.92637502A>T , CM000672.2:g.92637502A>T | GRCh38 |
| NC_000010.10:g.94397259A>T , CM000672.1:g.94397259A>T | GRCh37 |
| NC_000010.9:g.94387239A>T | NCBI36 |
| NG_032580.1:g.49435A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260731.5:c.2117A>T MANE Select | ENSP00000260731.3:p.Asn706Ile | |
| ENST00000676621.1:c.*635A>T | ENSP00000503639.1:n.*635A>T | |
| ENST00000676647.1:c.1910A>T | ENSP00000503394.1:p.Asn637Ile | |
| ENST00000676757.1:c.1910A>T | ENSP00000504289.1:p.Asn637Ile | |
| ENST00000677720.1:c.*91A>T | ENSP00000504840.1:n.*91A>T | |
| ENST00000260731.4:c.2117A>T | ENSP00000260731.3:p.Asn706Ile | |
| NM_004523.3:c.2117A>T | NP_004514.2:p.Asn706Ile | |
| NM_004523.4:c.2117A>T MANE Select | NP_004514.2:p.Asn706Ile |