Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122508688A>T , CM000672.2:g.122508688A>T | GRCh38 |
| NC_000010.10:g.124268204A>T , CM000672.1:g.124268204A>T | GRCh37 |
| NC_000010.9:g.124258194A>T | NCBI36 |
| NG_011554.1:g.52164A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.1038A>T MANE Select | ENSP00000357980.3:p.Lys346Asn | |
| ENST00000648167.1:c.720A>T | ENSP00000498033.1:p.Lys240Asn | |
| ENST00000368984.7:c.1038A>T | ENSP00000357980.3:p.Lys346Asn | |
| ENST00000420892.1:c.261A>T | ENSP00000412676.1:p.Lys87Asn | |
| NM_002775.4:c.1038A>T | NP_002766.1:p.Lys346Asn | |
| NM_002775.5:c.1038A>T MANE Select | NP_002766.1:p.Lys346Asn |