Linked Data
ClinVar Variation Id:
446468
ClinVar RCV Id:
RCV000515706
dbSNP Id:
rs1397669293
gnomAD v2:
1-21903147-G-A
gnomAD v4:
1-21576654-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21576654G>A , CM000663.2:g.21576654G>A | GRCh38 |
| NC_000001.10:g.21903147G>A , CM000663.1:g.21903147G>A | GRCh37 |
| NC_000001.9:g.21775734G>A | NCBI36 |
| NG_008940.1:g.72290G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374840.8:c.1309+13G>A MANE Select | ENSP00000363973.3:n.1309+13G>A | |
| ENST00000374829.2:n.578+13G>A | ||
| ENST00000374830.2:c.384+13G>A | ||
| ENST00000374832.5:c.1309+13G>A | ENSP00000363965.1:n.1309+13G>A | |
| ENST00000374840.7:c.1309+13G>A | ENSP00000363973.3:n.1309+13G>A | |
| ENST00000539907.5:c.1078+13G>A | ENSP00000437674.1:n.1078+13G>A | |
| ENST00000540617.5:c.1144+13G>A | ENSP00000442672.1:n.1144+13G>A | |
| NM_000478.4:c.1309+13G>A | NP_000469.3:n.1309+13G>A | |
| NM_001127501.2:c.1144+13G>A | NP_001120973.2:n.1144+13G>A | |
| NM_001177520.1:c.1078+13G>A | NP_001170991.1:n.1078+13G>A | |
| XM_005245818.1:c.1309+13G>A | XP_005245875.1:n.1309+13G>A | |
| XM_006710546.1:c.1309+13G>A | XP_006710609.1:n.1309+13G>A | |
| NM_000478.5:c.1309+13G>A | NP_000469.3:n.1309+13G>A | |
| NM_001127501.3:c.1144+13G>A | NP_001120973.2:n.1144+13G>A | |
| NM_001177520.2:c.1078+13G>A | NP_001170991.1:n.1078+13G>A | |
| XM_006710546.3:c.1309+13G>A | XP_006710609.1:n.1309+13G>A | |
| XM_017000903.1:c.1153+13G>A | XP_016856392.1:n.1153+13G>A | |
| NM_000478.6:c.1309+13G>A MANE Select | NP_000469.3:n.1309+13G>A | |
| NM_001127501.4:c.1144+13G>A | NP_001120973.2:n.1144+13G>A | |
| NM_001177520.3:c.1078+13G>A | NP_001170991.1:n.1078+13G>A | |
| NM_001369803.2:c.1309+13G>A | NP_001356732.1:n.1309+13G>A | |
| NM_001369804.2:c.1309+13G>A | NP_001356733.1:n.1309+13G>A | |
| NM_001369805.2:c.1309+13G>A | NP_001356734.1:n.1309+13G>A |