Linked Data
ClinVar Variation Id:
3009560
ClinVar RCV Id:
RCV003864671
dbSNP Id:
rs745589113
ExAC:
21:45194520 C / A
gnomAD v2:
21-45194520-C-A
gnomAD v3:
21-43774639-C-A
gnomAD v4:
21-43774639-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43774639C>A , CM000683.2:g.43774639C>A | GRCh38 |
| NC_000021.8:g.45194520C>A , CM000683.1:g.45194520C>A | GRCh37 |
| NC_000021.7:g.44018948C>A | NCBI36 |
| NG_011545.1:g.6740G>T , LRG_485:g.6740G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291568.7:c.168+19G>T MANE Select | ENSP00000291568.6:n.168+19G>T | |
| ENST00000480147.3:n.1630G>T | ||
| ENST00000639959.1:c.36-309G>T | ||
| ENST00000640406.1:c.187G>T | ENSP00000492672.1:p.Glu63Ter | |
| ENST00000675996.1:n.593+19G>T | ||
| ENST00000291568.5:c.168+19G>T | ENSP00000291568.5:n.168+19G>T | |
| ENST00000480147.1:n.224G>T | ||
| NM_000100.3:c.168+19G>T , LRG_485t1:c.168+19G>T | NP_000091.1:n.168+19G>T | |
| NM_000100.4:c.168+19G>T MANE Select | NP_000091.1:n.168+19G>T |