Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17553470A>T , CM000673.2:g.17553470A>T | GRCh38 |
| NC_000011.9:g.17575017A>T , CM000673.1:g.17575017A>T | GRCh37 |
| NC_000011.8:g.17531593A>T | NCBI36 |
| NG_033191.1:g.11098A>T | |
| NG_033191.2:g.11098A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399391.7:c.527A>T | ENSP00000382323.2:p.Tyr176Phe | |
| ENST00000399397.6:c.491A>T MANE Select | ENSP00000382329.2:p.Tyr164Phe | |
| ENST00000399391.6:c.527A>T | ENSP00000382323.2:p.Tyr176Phe | |
| ENST00000399397.5:c.491A>T | ENSP00000382329.2:p.Tyr164Phe | |
| ENST00000498332.5:n.397A>T | ||
| NM_001277269.1:c.527A>T | NP_001264198.1:p.Tyr176Phe | |
| NM_001292063.1:c.491A>T | NP_001278992.1:p.Tyr164Phe | |
| NM_001277269.2:c.527A>T | NP_001264198.1:p.Tyr176Phe | |
| NM_001292063.2:c.491A>T MANE Select | NP_001278992.1:p.Tyr164Phe |