Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133657152C>A , CM000671.2:g.133657152C>A | GRCh38 |
| NC_000009.11:g.136522274C>A , CM000671.1:g.136522274C>A | GRCh37 |
| NC_000009.10:g.135512095C>A | NCBI36 |
| NG_008645.1:g.25790C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000787.4:c.1645C>A (DBH) MANE Select | NP_000778.3:p.Arg549Ser |
| ENST00000393056.8:c.1645C>A (DBH) MANE Select | ENSP00000376776.2:p.Arg549Ser |
| NM_000787.3:c.1645C>A (DBH) | NP_000778.3:p.Arg549Ser |
| NR_102735.1:n.257G>T (DBH-AS1) | |
| ENST00000393056.6:c.1645C>A (DBH) | ENSP00000376776.2:p.Arg549Ser |