Linked Data
ClinVar Variation Id:
201697
dbSNP Id:
rs181712657
ExAC:
2:220284957 G / A
gnomAD v2:
2-220284957-G-A
gnomAD v3:
2-219420235-G-A
gnomAD v4:
2-219420235-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219420235G>A , CM000664.2:g.219420235G>A | GRCh38 |
| NC_000002.11:g.220284957G>A , CM000664.1:g.220284957G>A | GRCh37 |
| NC_000002.10:g.219993201G>A | NCBI36 |
| NG_008043.1:g.6859G>A , LRG_380:g.6859G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477226.6:n.114-16G>A | ||
| ENST00000683013.1:n.12G>A | ||
| ENST00000373960.4:c.640-16G>A MANE Select | ENSP00000363071.3:n.640-16G>A | |
| ENST00000373960.3:c.640-16G>A | ENSP00000363071.3:n.640-16G>A | |
| ENST00000477226.5:n.112-16G>A | ||
| ENST00000492726.1:n.35-16G>A | ||
| NM_001927.3:c.640-16G>A , LRG_380t1:c.640-16G>A | NP_001918.3:n.640-16G>A | |
| NM_001927.4:c.640-16G>A MANE Select | NP_001918.3:n.640-16G>A | |
| NM_001382708.1:c.637-16G>A | NP_001369637.1:n.637-16G>A | |
| NM_001382709.1:c.640-16G>A | NP_001369638.1:n.640-16G>A | |
| NM_001382710.1:c.640-16G>A | NP_001369639.1:n.640-16G>A | |
| NM_001382711.1:c.640-16G>A | NP_001369640.1:n.640-16G>A | |
| NM_001382712.1:c.640-16G>A | NP_001369641.1:n.640-16G>A | |
| NM_001382713.1:c.496-290G>A | NP_001369642.1:n.496-290G>A |