Linked Data
ClinVar Variation Id:
3397
ClinVar RCV Id:
RCV000003566
dbSNP Id:
rs10954213
gnomAD v2:
7-128589427-G-A
gnomAD v3:
7-128949373-G-A
gnomAD v4:
7-128949373-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128949373G>A , CM000669.2:g.128949373G>A | GRCh38 |
| NC_000007.13:g.128589427G>A , CM000669.1:g.128589427G>A | GRCh37 |
| NC_000007.12:g.128376663G>A | NCBI36 |
| NG_012306.1:g.16434G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000700148.1:n.2336G>A | ||
| ENST00000700151.1:n.4602G>A | ||
| ENST00000700152.1:n.4142G>A | ||
| ENST00000700153.1:n.3516G>A | ||
| ENST00000700154.1:n.1680G>A | ||
| ENST00000357234.10:c.*555G>A MANE Select | ENSP00000349770.5:n.*555G>A | |
| ENST00000489702.6:c.*555G>A | ENSP00000418037.2:n.*555G>A | |
| ENST00000249375.8:c.*555G>A | ENSP00000249375.4:n.*555G>A | |
| ENST00000402030.6:c.*555G>A | ENSP00000385352.2:n.*555G>A | |
| ENST00000465603.5:c.*1580G>A | ENSP00000418534.1:n.*1580G>A | |
| ENST00000473745.5:c.*555G>A | ENSP00000419149.1:n.*555G>A | |
| NM_001098627.3:c.*555G>A | NP_001092097.2:n.*555G>A | |
| NM_001098629.2:c.*555G>A | NP_001092099.1:n.*555G>A | |
| NM_001098630.2:c.*555G>A | NP_001092100.1:n.*555G>A | |
| NM_001242452.2:c.*555G>A | NP_001229381.1:n.*555G>A | |
| NM_032643.4:c.*555G>A | NP_116032.1:n.*555G>A | |
| XM_005250317.2:c.*555G>A | XP_005250374.1:n.*555G>A | |
| XM_006715974.2:c.*555G>A | XP_006716037.1:n.*555G>A | |
| XM_011516158.1:c.*555G>A | XP_011514460.1:n.*555G>A | |
| XM_011516159.1:c.*555G>A | XP_011514461.1:n.*555G>A | |
| XM_011516160.1:c.*555G>A | XP_011514462.1:n.*555G>A | |
| XM_011516161.1:c.*555G>A | XP_011514463.1:n.*555G>A | |
| XM_011516162.1:c.*555G>A | XP_011514464.1:n.*555G>A | |
| XM_011516163.1:c.*555G>A | XP_011514465.1:n.*555G>A | |
| XM_011516164.1:c.*555G>A | XP_011514466.1:n.*555G>A | |
| NM_001347928.1:c.*555G>A | NP_001334857.1:n.*555G>A | |
| NM_001364314.1:c.*555G>A | NP_001351243.1:n.*555G>A | |
| XM_011516158.3:c.*555G>A | XP_011514460.1:n.*555G>A | |
| XM_011516159.3:c.*555G>A | XP_011514461.1:n.*555G>A | |
| NM_001098629.3:c.*555G>A MANE Select | NP_001092099.1:n.*555G>A | |
| NM_001098630.3:c.*555G>A | NP_001092100.1:n.*555G>A | |
| NM_001242452.3:c.*555G>A | NP_001229381.1:n.*555G>A | |
| NM_001347928.2:c.*555G>A | NP_001334857.1:n.*555G>A | |
| NM_001364314.2:c.*555G>A | NP_001351243.1:n.*555G>A | |
| NM_001098627.4:c.*555G>A | NP_001092097.2:n.*555G>A | |
| NM_032643.5:c.*555G>A | NP_116032.1:n.*555G>A |