Linked Data
ClinVar Variation Id:
1934604
ClinVar RCV Id:
RCV002632068
dbSNP Id:
rs200029167
ExAC:
9:136521725 C / T
gnomAD v2:
9-136521725-C-T
gnomAD v3:
9-133656603-C-T
gnomAD v4:
9-133656603-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133656603C>T , CM000671.2:g.133656603C>T | GRCh38 |
| NC_000009.11:g.136521725C>T , CM000671.1:g.136521725C>T | GRCh37 |
| NC_000009.10:g.135511546C>T | NCBI36 |
| NG_008645.1:g.25241C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393056.8:c.1515C>T (DBH) MANE Select | ENSP00000376776.2:p.Ser505= | |
| ENST00000393056.6:c.1515C>T (DBH) | ENSP00000376776.2:p.Ser505= | |
| NM_000787.3:c.1515C>T (DBH) | NP_000778.3:p.Ser505= | |
| NR_102735.1:n.283-66G>A (DBH-AS1) | ||
| NM_000787.4:c.1515C>T (DBH) MANE Select | NP_000778.3:p.Ser505= |