Linked Data
ClinVar Variation Id:
1644297
ClinVar RCV Id:
RCV002140458
dbSNP Id:
rs1168068741
gnomAD v2:
17-40688693-C-A
gnomAD v3:
17-42536675-C-A
gnomAD v4:
17-42536675-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536675C>A , CM000679.2:g.42536675C>A | GRCh38 |
| NC_000017.10:g.40688693C>A , CM000679.1:g.40688693C>A | GRCh37 |
| NC_000017.9:g.37942219C>A | NCBI36 |
| NG_011552.1:g.5743C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.383+20C>A MANE Select | ENSP00000225927.1:n.383+20C>A | |
| ENST00000225927.6:c.383+20C>A | ENSP00000225927.1:n.383+20C>A | |
| ENST00000586516.5:c.133+20C>A | ||
| ENST00000591587.1:c.126+20C>A | ENSP00000467836.1:n.126+20C>A | |
| NM_000263.3:c.383+20C>A | NP_000254.2:n.383+20C>A | |
| XM_006721920.2:c.-360+20C>A | XP_006721983.1:n.-360+20C>A | |
| XM_011524840.1:c.-360+20C>A | XP_011523142.1:n.-360+20C>A | |
| XM_024450771.1:c.383+20C>A | XP_024306539.1:n.383+20C>A | |
| NM_000263.4:c.383+20C>A MANE Select | NP_000254.2:n.383+20C>A |