Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18785678T>A , CM000681.2:g.18785678T>A | GRCh38 |
| NC_000019.9:g.18896488T>A , CM000681.1:g.18896488T>A | GRCh37 |
| NC_000019.8:g.18757488T>A | NCBI36 |
| NG_007070.1:g.10627A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1663A>T MANE Select | ENSP00000222271.2:p.Asn555Tyr | |
| ENST00000222271.6:c.1663A>T | ENSP00000222271.2:p.Asn555Tyr | |
| ENST00000425807.1:c.1504A>T | ENSP00000403792.1:p.Asn502Tyr | |
| ENST00000542601.6:c.1564A>T | ENSP00000439156.2:p.Asn522Tyr | |
| NM_000095.2:c.1663A>T | NP_000086.2:p.Asn555Tyr | |
| NM_000095.3:c.1663A>T MANE Select | NP_000086.2:p.Asn555Tyr |