Linked Data
ClinVar Variation Id:
541704
dbSNP Id:
rs187822079
ExAC:
16:18804701 A / T
gnomAD v2:
16-18804701-A-T
gnomAD v3:
16-18793379-A-T
gnomAD v4:
16-18793379-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.18793379A>T , CM000678.2:g.18793379A>T | GRCh38 |
| NC_000016.9:g.18804701A>T , CM000678.1:g.18804701A>T | GRCh37 |
| NC_000016.8:g.18712202A>T | NCBI36 |
| NG_042860.1:g.13300T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304414.12:c.494-9T>A MANE Select | ENSP00000306788.7:n.494-9T>A | |
| ENST00000304414.11:c.494-9T>A | ENSP00000306788.7:n.494-9T>A | |
| ENST00000546206.6:c.407-9T>A | ENSP00000440048.2:n.407-9T>A | |
| ENST00000562819.5:c.149-9T>A | ENSP00000457372.1:n.149-9T>A | |
| ENST00000563861.5:c.*76-9T>A | ENSP00000456596.1:n.*76-9T>A | |
| ENST00000567078.2:c.493+1220T>A | ENSP00000454746.2:n.493+1220T>A | |
| NM_001313858.1:c.407-9T>A | NP_001300787.1:n.407-9T>A | |
| NM_015161.1:c.494-9T>A | NP_055976.1:n.494-9T>A | |
| NM_015161.2:c.494-9T>A | NP_055976.1:n.494-9T>A | |
| NM_015161.3:c.494-9T>A MANE Select | NP_055976.1:n.494-9T>A |