Linked Data
ClinVar Variation Id:
371718
dbSNP Id:
rs144259891
ExAC:
17:33904914 C / A
gnomAD v2:
17-33904914-C-A
gnomAD v3:
17-35577895-C-A
gnomAD v4:
17-35577895-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35577895C>A , CM000679.2:g.35577895C>A | GRCh38 |
| NC_000017.10:g.33904914C>A , CM000679.1:g.33904914C>A | GRCh37 |
| NC_000017.9:g.30929027C>A | NCBI36 |
| NG_008447.1:g.5743G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225873.9:c.126+1G>T MANE Select | ENSP00000225873.3:n.126+1G>T | |
| ENST00000586663.2:c.126+1G>T | ENSP00000466894.2:n.126+1G>T | |
| ENST00000225873.8:c.126+1G>T | ENSP00000225873.3:n.126+1G>T | |
| ENST00000585380.1:c.126+1G>T | ENSP00000466280.1:n.126+1G>T | |
| ENST00000586663.1:c.126+1G>T | ENSP00000466894.1:n.126+1G>T | |
| ENST00000613219.4:c.126+1G>T | ENSP00000482609.1:n.126+1G>T | |
| NM_000286.2:c.126+1G>T | NP_000277.1:n.126+1G>T | |
| NM_000286.3:c.126+1G>T MANE Select | NP_000277.1:n.126+1G>T |