Linked Data
ClinVar Variation Id:
782361
ClinVar RCV Id:
RCV000963742
dbSNP Id:
rs116627786
ExAC:
1:16351338 G / A
gnomAD v2:
1-16351338-G-A
gnomAD v3:
1-16024843-G-A
gnomAD v4:
1-16024843-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16024843G>A , CM000663.2:g.16024843G>A | GRCh38 |
| NC_000001.10:g.16351338G>A , CM000663.1:g.16351338G>A | GRCh37 |
| NC_000001.9:g.16223925G>A | NCBI36 |
| NG_009359.1:g.7853G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331433.5:c.310G>A MANE Select | ENSP00000332771.4:p.Val104Ile | |
| ENST00000331433.4:c.310G>A | ENSP00000332771.4:p.Val104Ile | |
| ENST00000375692.5:c.310G>A | ENSP00000364844.1:p.Val104Ile | |
| ENST00000439316.6:c.229+915G>A | ENSP00000414445.2:n.229+915G>A | |
| ENST00000464764.5:n.889-16G>A | ||
| ENST00000495784.1:n.468G>A | ||
| NM_001042704.1:c.310G>A | NP_001036169.1:p.Val104Ile | |
| NM_001257139.1:c.229+915G>A | NP_001244068.1:n.229+915G>A | |
| NM_004070.3:c.310G>A | NP_004061.3:p.Val104Ile | |
| NM_004070.4:c.310G>A MANE Select | NP_004061.3:p.Val104Ile | |
| NM_001042704.2:c.310G>A | NP_001036169.1:p.Val104Ile | |
| NM_001257139.2:c.229+915G>A | NP_001244068.1:n.229+915G>A |