Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133656636C>A , CM000671.2:g.133656636C>A | GRCh38 |
| NC_000009.11:g.136521758C>A , CM000671.1:g.136521758C>A | GRCh37 |
| NC_000009.10:g.135511579C>A | NCBI36 |
| NG_008645.1:g.25274C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393056.8:c.1548C>A (DBH) MANE Select | ENSP00000376776.2:p.Phe516Leu | |
| ENST00000393056.6:c.1548C>A (DBH) | ENSP00000376776.2:p.Phe516Leu | |
| NM_000787.3:c.1548C>A (DBH) | NP_000778.3:p.Phe516Leu | |
| NR_102735.1:n.283-99G>T (DBH-AS1) | ||
| NM_000787.4:c.1548C>A (DBH) MANE Select | NP_000778.3:p.Phe516Leu |