Linked Data
ClinVar Variation Id:
639542
ClinVar RCV Id:
RCV000792359
dbSNP Id:
rs961601560
gnomAD v2:
9-136521756-T-C
gnomAD v3:
9-133656634-T-C
gnomAD v4:
9-133656634-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133656634T>C , CM000671.2:g.133656634T>C | GRCh38 |
| NC_000009.11:g.136521756T>C , CM000671.1:g.136521756T>C | GRCh37 |
| NC_000009.10:g.135511577T>C | NCBI36 |
| NG_008645.1:g.25272T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393056.8:c.1546T>C (DBH) MANE Select | ENSP00000376776.2:p.Phe516Leu | |
| ENST00000393056.6:c.1546T>C (DBH) | ENSP00000376776.2:p.Phe516Leu | |
| NM_000787.3:c.1546T>C (DBH) | NP_000778.3:p.Phe516Leu | |
| NR_102735.1:n.283-97A>G (DBH-AS1) | ||
| NM_000787.4:c.1546T>C (DBH) MANE Select | NP_000778.3:p.Phe516Leu |