Linked Data
ClinVar Variation Id:
451722
dbSNP Id:
rs767191322
gnomAD v2:
22-21346659-G-A
gnomAD v3:
22-20992370-G-A
gnomAD v4:
22-20992370-G-A
COSMIC:
COSM1665940
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20992370G>A , CM000684.2:g.20992370G>A | GRCh38 |
| NC_000022.10:g.21346659G>A , CM000684.1:g.21346659G>A | GRCh37 |
| NC_000022.9:g.19676659G>A | NCBI36 |
| NG_034193.1:g.15102G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700578.1:c.1149+1G>A | ENSP00000515073.1:n.1149+1G>A | |
| ENST00000495142.6:n.494+1G>A | ||
| ENST00000642151.1:c.980+1G>A | ||
| ENST00000643578.1:n.1171+1G>A | ||
| ENST00000646124.2:c.1149+1G>A MANE Select | ENSP00000496779.1:n.1149+1G>A | |
| ENST00000646506.1:n.728+1G>A | ||
| ENST00000215739.12:c.1149+1G>A | ENSP00000215739.8:n.1149+1G>A | |
| ENST00000461510.1:n.251G>A | ||
| ENST00000479606.5:n.1295+1G>A | ||
| ENST00000492480.1:n.205+1G>A | ||
| ENST00000497716.5:n.976+1G>A | ||
| NM_006767.3:c.1149+1G>A | NP_006758.2:n.1149+1G>A | |
| NM_006767.4:c.1149+1G>A MANE Select | NP_006758.2:n.1149+1G>A |