Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15879612C>G , CM000681.2:g.15879612C>G | GRCh38 |
| NC_000019.9:g.15990422C>G , CM000681.1:g.15990422C>G | GRCh37 |
| NC_000019.8:g.15851422C>G | NCBI36 |
| NG_007971.2:g.23463G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221700.11:c.1306G>C MANE Select | ENSP00000221700.3:p.Asp436His | |
| ENST00000011989.11:c.1306G>C | ENSP00000011989.8:p.Asp436His | |
| ENST00000221700.10:c.1306G>C | ENSP00000221700.3:p.Asp436His | |
| ENST00000392846.7:n.1249G>C | ||
| ENST00000589654.2:c.103-184G>C | ||
| NM_001082.4:c.1306G>C | NP_001073.3:p.Asp436His | |
| NM_001082.5:c.1306G>C MANE Select | NP_001073.3:p.Asp436His |