Linked Data
ClinVar Variation Id:
813467
ClinVar RCV Id:
RCV001004546
dbSNP Id:
rs765906340
ExAC:
9:6558558 C / T
gnomAD v2:
9-6558558-C-T
gnomAD v4:
9-6558558-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6558558C>T , CM000671.2:g.6558558C>T | GRCh38 |
| NC_000009.11:g.6558558C>T , CM000671.1:g.6558558C>T | GRCh37 |
| NC_000009.10:g.6548558C>T | NCBI36 |
| NG_016397.1:g.92135G>A , LRG_643:g.92135G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2052+1G>A MANE Select | ENSP00000370737.4:n.2052+1G>A | |
| ENST00000460457.2:n.212+1G>A | ||
| ENST00000638233.1:n.487+1G>A | ||
| ENST00000638661.1:c.252+1G>A | ENSP00000491369.1:n.252+1G>A | |
| ENST00000638694.1:n.239+1G>A | ||
| ENST00000639318.1:c.252+1G>A | ENSP00000491932.1:n.252+1G>A | |
| ENST00000639364.1:n.1752+1G>A | ||
| ENST00000639443.1:n.1620+1G>A | ||
| ENST00000639954.1:n.1760+1G>A | ||
| ENST00000640208.1:c.253G>A | ENSP00000491895.1:p.Val85Ile | |
| ENST00000640505.1:n.291+1G>A | ||
| ENST00000640592.1:n.1936G>A | ||
| ENST00000321612.6:c.2052+1G>A | ENSP00000370737.3:n.2052+1G>A | |
| ENST00000460457.1:n.192G>A | ||
| NM_000170.2:c.2052+1G>A , LRG_643t1:c.2052+1G>A | NP_000161.2:n.2052+1G>A | |
| NM_000170.3:c.2052+1G>A MANE Select | NP_000161.2:n.2052+1G>A |