Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94781867A>C , CM000672.2:g.94781867A>C | GRCh38 |
| NC_000010.10:g.96541624A>C , CM000672.1:g.96541624A>C | GRCh37 |
| NC_000010.9:g.96531614A>C | NCBI36 |
| NG_008384.2:g.24162A>C | |
| NG_008384.3:g.24187A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371321.9:c.689A>C MANE Select | ENSP00000360372.3:p.His230Pro | |
| ENST00000645461.1:n.1742A>C | ||
| ENST00000371321.7:c.689A>C | ENSP00000360372.3:p.His230Pro | |
| ENST00000464755.1:c.1452A>C | ENSP00000483243.1:n.1452A>C | |
| NM_000769.2:c.689A>C | NP_000760.1:p.His230Pro | |
| NM_000769.4:c.689A>C MANE Select | NP_000760.1:p.His230Pro |