Linked Data
ClinVar Variation Id:
15640
ClinVar RCV Id:
RCV003234911
dbSNP Id:
rs41529844
ExAC:
16:223561 G / C
gnomAD v2:
16-223561-G-C
gnomAD v3:
16-173562-G-C
gnomAD v4:
16-173562-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173562G>C , CM000678.2:g.173562G>C | GRCh38 |
| NC_000016.9:g.223561G>C , CM000678.1:g.223561G>C | GRCh37 |
| NC_000016.8:g.163561G>C | NCBI36 |
| NG_000006.1:g.34425G>C | |
| NG_059186.1:g.1912G>C | |
| NG_059271.1:g.5716G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251595.11:c.391G>C MANE Select | ENSP00000251595.6:p.Ala131Pro | |
| ENST00000251595.10:c.391G>C | ENSP00000251595.6:p.Ala131Pro | |
| ENST00000397806.1:c.295G>C | ENSP00000380908.1:p.Ala99Pro | |
| ENST00000482565.1:n.527G>C | ||
| NM_000517.4:c.391G>C | NP_000508.1:p.Ala131Pro | |
| NM_000517.6:c.391G>C MANE Select | NP_000508.1:p.Ala131Pro |