Linked Data
ClinVar Variation Id:
1232817
ClinVar RCV Id:
RCV001621165
dbSNP Id:
rs1057147
ExAC:
16:818802 G / A
gnomAD v2:
16-818802-G-A
gnomAD v3:
16-768802-G-A
gnomAD v4:
16-768802-G-A
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.768802G>A , CM000678.2:g.768802G>A | GRCh38 |
| NC_000016.9:g.818802G>A , CM000678.1:g.818802G>A | GRCh37 |
| NC_000016.8:g.758803G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545450.7:c.*69G>A MANE Select | ENSP00000442965.2:n.*69G>A | |
| ENST00000382862.7:c.*69G>A | ENSP00000372313.3:n.*69G>A | |
| ENST00000545450.6:c.*69G>A | ENSP00000442965.2:n.*69G>A | |
| ENST00000561896.1:c.1132G>A | ENSP00000457847.1:p.Val378Ile | |
| ENST00000563941.5:c.*69G>A | ENSP00000456008.1:n.*69G>A | |
| ENST00000566549.5:c.*69G>A | ENSP00000456702.1:n.*69G>A | |
| ENST00000620831.4:c.*69G>A | ENSP00000482893.1:n.*69G>A | |
| NM_001177355.1:c.*69G>A | NP_001170826.1:n.*69G>A | |
| NM_005823.5:c.*69G>A | NP_005814.2:n.*69G>A | |
| NM_013404.4:c.*69G>A | NP_037536.2:n.*69G>A | |
| XM_005255034.3:c.*69G>A | XP_005255091.1:n.*69G>A | |
| XM_006720837.2:c.*69G>A | XP_006720900.1:n.*69G>A | |
| XM_011522346.1:c.*69G>A | XP_011520648.1:n.*69G>A | |
| XM_011522347.1:c.*69G>A | XP_011520649.1:n.*69G>A | |
| XM_011522348.1:c.*69G>A | XP_011520650.1:n.*69G>A | |
| XM_011522349.1:c.*69G>A | XP_011520651.1:n.*69G>A | |
| XM_011522350.1:c.*69G>A | XP_011520652.1:n.*69G>A | |
| NM_001177355.2:c.*69G>A | NP_001170826.1:n.*69G>A | |
| NM_005823.6:c.*69G>A MANE Select | NP_005814.2:n.*69G>A | |
| NM_001177355.3:c.*69G>A | NP_001170826.1:n.*69G>A |