Linked Data
ClinVar Variation Id:
198192
dbSNP Id:
rs201499815
ExAC:
10:13330355 C / A
gnomAD v2:
10-13330355-C-A
gnomAD v3:
10-13288355-C-A
gnomAD v4:
10-13288355-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.13288355C>A , CM000672.2:g.13288355C>A | GRCh38 |
| NC_000010.10:g.13330355C>A , CM000672.1:g.13330355C>A | GRCh37 |
| NC_000010.9:g.13370361C>A | NCBI36 |
| NG_012862.1:g.16776G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263038.9:c.678+5G>T MANE Select | ENSP00000263038.4:n.678+5G>T | |
| ENST00000263038.8:c.678+5G>T | ENSP00000263038.4:n.678+5G>T | |
| ENST00000396913.6:c.378+5G>T | ENSP00000380121.2:n.378+5G>T | |
| ENST00000396920.7:c.627+5G>T | ENSP00000380126.3:n.627+5G>T | |
| ENST00000453759.6:c.378+5G>T | ENSP00000412525.2:n.378+5G>T | |
| NM_001037537.1:c.378+5G>T | NP_001032626.1:n.378+5G>T | |
| NM_006214.3:c.678+5G>T | NP_006205.1:n.678+5G>T | |
| XM_005252469.2:c.460-4516G>T | XP_005252526.1:n.460-4516G>T | |
| NM_001323080.1:c.378+5G>T | NP_001310009.1:n.378+5G>T | |
| NM_001323082.1:c.684+5G>T | NP_001310011.1:n.684+5G>T | |
| NM_001323083.1:c.415-4516G>T | NP_001310012.1:n.415-4516G>T | |
| NM_001323084.1:c.384+5G>T | NP_001310013.1:n.384+5G>T | |
| NM_006214.4:c.678+5G>T MANE Select | NP_006205.1:n.678+5G>T | |
| NM_001037537.2:c.378+5G>T | NP_001032626.1:n.378+5G>T | |
| NM_001323080.2:c.378+5G>T | NP_001310009.1:n.378+5G>T | |
| NM_001323082.2:c.684+5G>T | NP_001310011.1:n.684+5G>T | |
| NM_001323083.2:c.415-4516G>T | NP_001310012.1:n.415-4516G>T | |
| NM_001323084.2:c.384+5G>T | NP_001310013.1:n.384+5G>T |