Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52516783C>G , CM000674.2:g.52516783C>G | GRCh38 |
| NC_000012.11:g.52910567C>G , CM000674.1:g.52910567C>G | GRCh37 |
| NC_000012.10:g.51196834C>G | NCBI36 |
| NG_008297.1:g.8677G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.1293G>C MANE Select | ENSP00000252242.4:p.Lys431Asn | |
| ENST00000252242.8:c.1293G>C | ENSP00000252242.4:p.Lys431Asn | |
| ENST00000547890.5:n.671G>C | ||
| ENST00000548409.5:c.415G>C | ||
| ENST00000549511.5:n.500G>C | ||
| ENST00000552629.5:n.1391G>C | ||
| NM_000424.3:c.1293G>C | NP_000415.2:p.Lys431Asn | |
| NM_000424.4:c.1293G>C MANE Select | NP_000415.2:p.Lys431Asn |