Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36564876G>T , CM000684.2:g.36564876G>T | GRCh38 |
| NC_000022.10:g.36960923G>T , CM000684.1:g.36960923G>T | GRCh37 |
| NC_000022.9:g.35290869G>T | NCBI36 |
| NG_031861.1:g.142768C>A | |
| NG_031861.2:g.142983C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300105.7:c.447C>A MANE Select | ENSP00000300105.6:p.Asn149Lys | |
| ENST00000300105.6:c.447C>A | ENSP00000300105.6:p.Asn149Lys | |
| NM_006078.3:c.447C>A | NP_006069.1:p.Asn149Lys | |
| NM_006078.4:c.447C>A | NP_006069.1:p.Asn149Lys | |
| XM_017028531.2:c.189C>A | XP_016884020.1:p.Asn63Lys | |
| NM_001379051.1:c.378C>A | NP_001365980.1:p.Asn126Lys | |
| NM_006078.5:c.447C>A MANE Select | NP_006069.1:p.Asn149Lys | |
| NR_166440.1:n.1813C>A |