Linked Data
ClinVar Variation Id:
431700
ClinVar RCV Id:
RCV000655934
dbSNP Id:
rs74315443
gnomAD v2:
21-45196141-C-A
gnomAD v4:
21-43776260-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43776260C>A , CM000683.2:g.43776260C>A | GRCh38 |
| NC_000021.8:g.45196141C>A , CM000683.1:g.45196141C>A | GRCh37 |
| NC_000021.7:g.44020569C>A | NCBI36 |
| NG_011545.1:g.5119G>T , LRG_485:g.5119G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291568.7:c.10G>T MANE Select | ENSP00000291568.6:p.Gly4Trp | |
| ENST00000480147.3:n.9G>T | ||
| ENST00000640406.1:c.10G>T | ENSP00000492672.1:p.Gly4Trp | |
| ENST00000675996.1:n.71G>T | ||
| ENST00000291568.5:c.10G>T | ENSP00000291568.5:p.Gly4Trp | |
| ENST00000480147.1:n.47G>T | ||
| NM_000100.3:c.10G>T , LRG_485t1:c.10G>T | NP_000091.1:p.Gly4Trp | |
| NM_000100.4:c.10G>T MANE Select | NP_000091.1:p.Gly4Trp |