Linked Data
ClinVar Variation Id:
1898402
ClinVar RCV Id:
RCV002573915
dbSNP Id:
rs201692924
ExAC:
10:101604238 G / A
gnomAD v2:
10-101604238-G-A
gnomAD v3:
10-99844481-G-A
gnomAD v4:
10-99844481-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99844481G>A , CM000672.2:g.99844481G>A | GRCh38 |
| NC_000010.10:g.101604238G>A , CM000672.1:g.101604238G>A | GRCh37 |
| NC_000010.9:g.101594228G>A | NCBI36 |
| NG_011798.1:g.66776G>A | |
| NG_011798.2:g.66884G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.3987+16G>A MANE Select | ENSP00000497274.1:n.3987+16G>A | |
| ENST00000649459.1:n.335+16G>A | ||
| ENST00000370449.8:c.3987+16G>A | ENSP00000359478.4:n.3987+16G>A | |
| NM_000392.4:c.3987+16G>A | NP_000383.1:n.3987+16G>A | |
| XM_006717630.2:c.3291+16G>A | XP_006717693.1:n.3291+16G>A | |
| XR_945604.1:n.4176+16G>A | ||
| XR_945605.1:n.4051+16G>A | ||
| NM_000392.5:c.3987+16G>A MANE Select | NP_000383.2:n.3987+16G>A | |
| XM_006717630.3:c.3291+16G>A | XP_006717693.1:n.3291+16G>A | |
| XR_945604.3:n.4230+16G>A | ||
| XR_945605.3:n.4103+16G>A |