Linked Data
ClinVar Variation Id:
1991684
ClinVar RCV Id:
RCV002790808
dbSNP Id:
rs752827324
ExAC:
8:19797055 A / G
gnomAD v2:
8-19797055-A-G
gnomAD v3:
8-19939544-A-G
gnomAD v4:
8-19939544-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19939544A>G , CM000670.2:g.19939544A>G | GRCh38 |
| NC_000008.10:g.19797055A>G , CM000670.1:g.19797055A>G | GRCh37 |
| NC_000008.9:g.19841335A>G | NCBI36 |
| NG_008855.1:g.5474A>G | |
| NG_008855.2:g.42828A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.88+16A>G MANE Select | ENSP00000497642.1:n.88+16A>G | |
| ENST00000311322.8:c.88+16A>G | ENSP00000309757.6:n.88+16A>G | |
| ENST00000519773.1:c.88+16A>G | ENSP00000431028.1:n.88+16A>G | |
| ENST00000520959.5:c.-140-8636A>G | ENSP00000428496.1:n.-140-8636A>G | |
| ENST00000521994.1:n.273+16A>G | ||
| ENST00000522701.5:c.88+16A>G | ENSP00000428557.1:n.88+16A>G | |
| ENST00000523696.1:n.157+16A>G | ||
| ENST00000524029.5:c.88+16A>G | ENSP00000428237.1:n.88+16A>G | |
| NM_000237.2:c.88+16A>G | NP_000228.1:n.88+16A>G | |
| NM_000237.3:c.88+16A>G MANE Select | NP_000228.1:n.88+16A>G |