Linked Data
ClinVar Variation Id:
2207091
ClinVar RCV Id:
RCV004071475
dbSNP Id:
rs962693280
gnomAD v2:
8-23540330-G-A
gnomAD v4:
8-23682817-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23682817G>A , CM000670.2:g.23682817G>A | GRCh38 |
| NC_000008.10:g.23540330G>A , CM000670.1:g.23540330G>A | GRCh37 |
| NC_000008.9:g.23596275G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380871.5:c.73C>T MANE Select | ENSP00000370253.4:p.Pro25Ser | |
| ENST00000380871.4:c.73C>T | ENSP00000370253.4:p.Pro25Ser | |
| ENST00000523261.1:c.33+40C>T | ENSP00000429729.1:n.33+40C>T | |
| NM_001256339.1:c.33+40C>T | NP_001243268.1:n.33+40C>T | |
| NM_006167.3:c.73C>T | NP_006158.2:p.Pro25Ser | |
| NR_046072.1:n.18+87C>T | ||
| XR_001745842.1:n.1312+14067G>A | ||
| NM_006167.4:c.73C>T MANE Select | NP_006158.2:p.Pro25Ser | |
| NR_046072.2:n.35+87C>T |