Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94762835C>A , CM000672.2:g.94762835C>A | GRCh38 |
| NC_000010.10:g.96522592C>A , CM000672.1:g.96522592C>A | GRCh37 |
| NC_000010.9:g.96512582C>A | NCBI36 |
| NG_008384.2:g.5130C>A | |
| NG_008384.3:g.5155C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.130C>A MANE Select | ENSP00000360372.3:p.Gln44Lys | |
| ENST00000371321.7:c.130C>A | ENSP00000360372.3:p.Gln44Lys | |
| ENST00000464755.1:c.932-12223C>A | ENSP00000483243.1:n.932-12223C>A | |
| ENST00000480405.2:c.130C>A | ENSP00000483847.1:p.Gln44Lys | |
| NM_000769.2:c.130C>A | NP_000760.1:p.Gln44Lys | |
| NM_000769.4:c.130C>A MANE Select | NP_000760.1:p.Gln44Lys |