Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94775127T>C , CM000672.2:g.94775127T>C | GRCh38 |
| NC_000010.10:g.96534884T>C , CM000672.1:g.96534884T>C | GRCh37 |
| NC_000010.9:g.96524874T>C | NCBI36 |
| NG_008384.2:g.17422T>C | |
| NG_008384.3:g.17447T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.238T>C MANE Select | ENSP00000360372.3:p.Tyr80His | |
| ENST00000645461.1:n.1291T>C | ||
| ENST00000371321.7:c.238T>C | ENSP00000360372.3:p.Tyr80His | |
| ENST00000464755.1:c.1001T>C | ENSP00000483243.1:p.Ile334Thr | |
| ENST00000480405.2:c.238T>C | ENSP00000483847.1:p.Tyr80His | |
| NM_000769.2:c.238T>C | NP_000760.1:p.Tyr80His | |
| NM_000769.4:c.238T>C MANE Select | NP_000760.1:p.Tyr80His |