Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64753159G>T , CM000673.2:g.64753159G>T | GRCh38 |
| NC_000011.9:g.64520631G>T , CM000673.1:g.64520631G>T | GRCh37 |
| NC_000011.8:g.64277207G>T | NCBI36 |
| NG_013018.1:g.12557C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.1432C>A MANE Select | ENSP00000164139.3:p.His478Asn | |
| ENST00000164139.3:c.1432C>A | ENSP00000164139.3:p.His478Asn | |
| ENST00000377432.7:c.1168C>A | ENSP00000366650.3:p.His390Asn | |
| NM_001164716.1:c.1168C>A | NP_001158188.1:p.His390Asn | |
| NM_005609.2:c.1432C>A | NP_005600.1:p.His478Asn | |
| NM_005609.3:c.1432C>A | NP_005600.1:p.His478Asn | |
| NM_005609.4:c.1432C>A MANE Select | NP_005600.1:p.His478Asn |