Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.99218792C>G , CM000671.2:g.99218792C>G | GRCh38 |
| NC_000009.11:g.101981074C>G , CM000671.1:g.101981074C>G | GRCh37 |
| NC_000009.10:g.101020895C>G | NCBI36 |
| NG_008928.1:g.8173G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476832.2:c.393G>C MANE Select | ENSP00000417764.1:p.Lys131Asn | |
| ENST00000238477.5:c.*135G>C | ENSP00000432675.2:n.*135G>C | |
| ENST00000319033.7:c.114G>C | ENSP00000326609.6:p.Lys38Asn | |
| ENST00000476832.1:c.393G>C | ENSP00000417764.1:p.Lys131Asn | |
| NM_033087.3:c.393G>C | NP_149078.1:p.Lys131Asn | |
| NR_024532.1:n.622G>C | ||
| NM_033087.4:c.393G>C MANE Select | NP_149078.1:p.Lys131Asn | |
| NR_024532.2:n.600G>C |