Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133657152C>T , CM000671.2:g.133657152C>T | GRCh38 |
| NC_000009.11:g.136522274C>T , CM000671.1:g.136522274C>T | GRCh37 |
| NC_000009.10:g.135512095C>T | NCBI36 |
| NG_008645.1:g.25790C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000787.4:c.1645C>T (DBH) MANE Select | NP_000778.3:p.Arg549Cys |
| ENST00000393056.8:c.1645C>T (DBH) MANE Select | ENSP00000376776.2:p.Arg549Cys |
| NM_000787.3:c.1645C>T (DBH) | NP_000778.3:p.Arg549Cys |
| NR_102735.1:n.257G>A (DBH-AS1) | |
| ENST00000393056.6:c.1645C>T (DBH) | ENSP00000376776.2:p.Arg549Cys |