Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19951906A>C , CM000670.2:g.19951906A>C | GRCh38 |
| NC_000008.10:g.19809417A>C , CM000670.1:g.19809417A>C | GRCh37 |
| NC_000008.9:g.19853697A>C | NCBI36 |
| NG_008855.1:g.17836A>C | |
| NG_008855.2:g.55190A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.387A>C MANE Select | ENSP00000497642.1:p.Lys129Asn | |
| ENST00000311322.8:c.387A>C | ENSP00000309757.6:p.Lys129Asn | |
| ENST00000520959.5:c.159A>C | ENSP00000428496.1:p.Lys53Asn | |
| ENST00000524029.5:c.387A>C | ENSP00000428237.1:p.Lys129Asn | |
| NM_000237.2:c.387A>C | NP_000228.1:p.Lys129Asn | |
| NM_000237.3:c.387A>C MANE Select | NP_000228.1:p.Lys129Asn |