Linked Data
ClinVar Variation Id:
750958
ClinVar RCV Id:
RCV000927974
dbSNP Id:
rs777841494
MyVariant Identifiers:
chr9:g.136522285G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133657163G>A , CM000671.2:g.133657163G>A | GRCh38 |
| NC_000009.11:g.136522285G>A , CM000671.1:g.136522285G>A | GRCh37 |
| NC_000009.10:g.135512106G>A | NCBI36 |
| NG_008645.1:g.25801G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393056.8:c.1656G>A (DBH) MANE Select | ENSP00000376776.2:p.Leu552= | |
| ENST00000393056.6:c.1656G>A (DBH) | ENSP00000376776.2:p.Leu552= | |
| NM_000787.3:c.1656G>A (DBH) | NP_000778.3:p.Leu552= | |
| NR_102735.1:n.246C>T (DBH-AS1) | ||
| NM_000787.4:c.1656G>A (DBH) MANE Select | NP_000778.3:p.Leu552= |