Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89919797T>A , CM000678.2:g.89919797T>A | GRCh38 |
| NC_000016.9:g.89986205T>A , CM000678.1:g.89986205T>A | GRCh37 |
| NC_000016.8:g.88513706T>A | NCBI36 |
| NG_012026.1:g.6919T>A | |
| NG_027810.1:g.2789T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555147.2:c.539T>A MANE Select | ENSP00000451605.1:p.Ile180Asn | |
| ENST00000639847.1:c.539T>A | ENSP00000492011.1:p.Ile180Asn | |
| ENST00000555147.1:c.539T>A | ENSP00000451605.1:p.Ile180Asn | |
| ENST00000555427.1:c.539T>A | ENSP00000451760.1:p.Ile180Asn | |
| ENST00000556922.1:c.539T>A | ENSP00000451560.1:p.Ile180Asn | |
| NM_002386.3:c.539T>A | NP_002377.4:p.Ile180Asn | |
| NM_002386.4:c.539T>A MANE Select | NP_002377.4:p.Ile180Asn |