Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43755635T>A , CM000679.2:g.43755635T>A | GRCh38 |
| NC_000017.10:g.41833003T>A , CM000679.1:g.41833003T>A | GRCh37 |
| NC_000017.9:g.39188529T>A | NCBI36 |
| NG_008078.2:g.8154A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301691.3:c.349A>T MANE Select | ENSP00000301691.1:p.Asn117Tyr | |
| ENST00000301691.2:c.349A>T | ENSP00000301691.1:p.Asn117Tyr | |
| NM_025237.2:c.349A>T | NP_079513.1:p.Asn117Tyr | |
| NM_025237.3:c.349A>T MANE Select | NP_079513.1:p.Asn117Tyr |