Linked Data
ClinVar Variation Id:
183328
dbSNP Id:
rs730882231
gnomAD v4:
2-201629229-C-T
PubMed:
PMID:25558065
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201629229C>T , CM000664.2:g.201629229C>T | GRCh38 |
| NC_000002.11:g.202493952C>T , CM000664.1:g.202493952C>T | GRCh37 |
| NC_000002.10:g.202202197C>T | NCBI36 |
| NG_032049.1:g.19301G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471318.6:n.759+1G>A | ||
| ENST00000621467.5:c.743+1G>A | ENSP00000480508.2:n.743+1G>A | |
| ENST00000686475.1:n.809+1G>A | ||
| ENST00000409883.7:c.869+1G>A MANE Select | ENSP00000386264.2:n.869+1G>A | |
| ENST00000286196.9:c.*433+1G>A | ENSP00000286196.5:n.*433+1G>A | |
| ENST00000409444.6:c.845+1G>A | ENSP00000387203.2:n.845+1G>A | |
| ENST00000409883.6:c.869+1G>A | ENSP00000386264.2:n.869+1G>A | |
| ENST00000466641.5:n.567+1G>A | ||
| ENST00000466839.5:n.737+1G>A | ||
| ENST00000471318.5:n.191+1G>A | ||
| ENST00000621467.4:c.845+1G>A | ENSP00000480508.1:n.845+1G>A | |
| NM_001044385.2:c.869+1G>A | NP_001037850.1:n.869+1G>A | |
| NM_152388.3:c.845+1G>A | NP_689601.2:n.845+1G>A | |
| NM_001044385.3:c.869+1G>A MANE Select | NP_001037850.1:n.869+1G>A | |
| NM_152388.4:c.845+1G>A | NP_689601.2:n.845+1G>A |