Linked Data
ClinVar Variation Id:
1127193
ClinVar RCV Id:
RCV001459511
dbSNP Id:
rs372984113
ExAC:
10:17277160 C / A
gnomAD v2:
10-17277160-C-A
gnomAD v3:
10-17235161-C-A
gnomAD v4:
10-17235161-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.17235161C>A , CM000672.2:g.17235161C>A | GRCh38 |
| NC_000010.10:g.17277160C>A , CM000672.1:g.17277160C>A | GRCh37 |
| NC_000010.9:g.17317166C>A | NCBI36 |
| NG_012413.1:g.11903C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000544301.7:c.1009-8C>A MANE Select | ENSP00000446007.1:n.1009-8C>A | |
| ENST00000224237.9:c.1009-8C>A | ENSP00000224237.5:n.1009-8C>A | |
| ENST00000469543.5:c.463-8C>A | ENSP00000431702.1:n.463-8C>A | |
| ENST00000487938.5:c.1009-8C>A | ENSP00000435613.1:n.1009-8C>A | |
| ENST00000544301.5:c.1009-8C>A | ENSP00000446007.1:n.1009-8C>A | |
| NM_003380.3:c.1009-8C>A | NP_003371.2:n.1009-8C>A | |
| XM_006717500.1:c.1009-8C>A | XP_006717563.1:n.1009-8C>A | |
| XM_011519649.1:c.1009-8C>A | XP_011517951.1:n.1009-8C>A | |
| NM_003380.4:c.1009-8C>A | NP_003371.2:n.1009-8C>A | |
| XM_006717500.2:c.1009-8C>A | XP_006717563.1:n.1009-8C>A | |
| NM_003380.5:c.1009-8C>A MANE Select | NP_003371.2:n.1009-8C>A |