Linked Data
ClinVar Variation Id:
229355
ClinVar RCV Id:
RCV000220498
dbSNP Id:
rs876658037
gnomAD v2:
22-38129424-G-A
gnomAD v4:
22-37733417-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37733417G>A , CM000684.2:g.37733417G>A | GRCh38 |
| NC_000022.10:g.38129424G>A , CM000684.1:g.38129424G>A | GRCh37 |
| NC_000022.9:g.36459370G>A | NCBI36 |
| NG_012857.1:g.41430G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644935.1:c.4062+5G>A MANE Select | ENSP00000496394.1:n.4062+5G>A | |
| ENST00000344404.10:c.*3545+5G>A | ENSP00000340312.6:n.*3545+5G>A | |
| ENST00000406386.7:c.4062+5G>A | ENSP00000384312.3:n.4062+5G>A | |
| NM_001039141.2:c.4062+5G>A | NP_001034230.1:n.4062+5G>A | |
| XM_011530646.1:c.512-3058C>T | XP_011528948.1:n.512-3058C>T | |
| NM_001039141.3:c.4062+5G>A MANE Select | NP_001034230.1:n.4062+5G>A |