Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75005921C>A , CM000676.2:g.75005921C>A | GRCh38 |
| NC_000014.8:g.75472624C>A , CM000676.1:g.75472624C>A | GRCh37 |
| NC_000014.7:g.74542377C>A | NCBI36 |
| NG_013333.1:g.8013C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266126.10:c.653C>A MANE Select | ENSP00000266126.5:p.Thr218Asn | |
| ENST00000266126.9:c.653C>A | ENSP00000266126.5:p.Thr218Asn | |
| ENST00000553401.5:c.651C>A | ENSP00000451681.1:n.651C>A | |
| ENST00000554748.2:c.17C>A | ENSP00000452582.2:p.Thr6Asn | |
| ENST00000556028.5:c.*1C>A | ENSP00000452311.1:n.*1C>A | |
| NM_014239.3:c.653C>A | NP_055054.1:p.Thr218Asn | |
| NM_014239.4:c.653C>A MANE Select | NP_055054.1:p.Thr218Asn |