Linked Data
ClinVar Variation Id:
2872716
ClinVar RCV Id:
RCV003600146
dbSNP Id:
rs971505629
gnomAD v2:
9-136522362-A-G
gnomAD v3:
9-133657240-A-G
gnomAD v4:
9-133657240-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133657240A>G , CM000671.2:g.133657240A>G | GRCh38 |
| NC_000009.11:g.136522362A>G , CM000671.1:g.136522362A>G | GRCh37 |
| NC_000009.10:g.135512183A>G | NCBI36 |
| NG_008645.1:g.25878A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393056.8:c.1722+11A>G (DBH) MANE Select | ENSP00000376776.2:n.1722+11A>G | |
| ENST00000393056.6:c.1722+11A>G (DBH) | ENSP00000376776.2:n.1722+11A>G | |
| NM_000787.3:c.1722+11A>G (DBH) | NP_000778.3:n.1722+11A>G | |
| NR_102735.1:n.169T>C (DBH-AS1) | ||
| NM_000787.4:c.1722+11A>G (DBH) MANE Select | NP_000778.3:n.1722+11A>G |