Linked Data
ClinVar Variation Id:
6840
ClinVar RCV Id:
RCV000007242
dbSNP Id:
rs104894269
gnomAD v4:
11-72243790-G-A
PubMed:
PMID:11600883
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72243790G>A , CM000673.2:g.72243790G>A | GRCh38 |
| NC_000011.9:g.71954834G>A , CM000673.1:g.71954834G>A | GRCh37 |
| NC_000011.8:g.71632482G>A | NCBI36 |
| NG_008169.1:g.5387C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298231.5:c.215C>T MANE Select | ENSP00000298231.5:p.Ala72Val | |
| ENST00000544057.1:n.85+1790C>T | ||
| NM_005169.3:c.215C>T | NP_005160.2:p.Ala72Val | |
| NM_005169.4:c.215C>T MANE Select | NP_005160.2:p.Ala72Val |