Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94988851A>C , CM000672.2:g.94988851A>C | GRCh38 |
| NC_000010.10:g.96748608A>C , CM000672.1:g.96748608A>C | GRCh37 |
| NC_000010.9:g.96738598A>C | NCBI36 |
| NG_008385.1:g.55194A>C | |
| NG_008385.2:g.55694A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.1296A>C MANE Select | ENSP00000260682.6:p.Lys432Asn | |
| ENST00000643112.1:c.*305A>C | ENSP00000496202.1:n.*305A>C | |
| ENST00000260682.6:c.1296A>C | ENSP00000260682.6:p.Lys432Asn | |
| NM_000771.3:c.1296A>C | NP_000762.2:p.Lys432Asn | |
| NM_000771.4:c.1296A>C MANE Select | NP_000762.2:p.Lys432Asn |