Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.132694132T>A , CM000668.2:g.132694132T>A | GRCh38 |
| NC_000006.11:g.133015271T>A , CM000668.1:g.133015271T>A | GRCh37 |
| NC_000006.10:g.133056964T>A | NCBI36 |
| NG_012147.1:g.24924A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004666.3:c.392A>T MANE Select | NP_004657.2:p.Asn131Ile |
| ENST00000367928.5:c.392A>T MANE Select | ENSP00000356905.4:p.Asn131Ile |
| NM_004666.2:c.392A>T | NP_004657.2:p.Asn131Ile |
| ENST00000367928.4:c.392A>T | ENSP00000356905.4:p.Asn131Ile |