Linked Data
ClinVar Variation Id:
516309
dbSNP Id:
rs771777757
ExAC:
15:65321935 C / G
gnomAD v2:
15-65321935-C-G
gnomAD v3:
15-65029597-C-G
gnomAD v4:
15-65029597-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65029597C>G , CM000677.2:g.65029597C>G | GRCh38 |
| NC_000015.9:g.65321935C>G , CM000677.1:g.65321935C>G | GRCh37 |
| NC_000015.8:g.63108988C>G | NCBI36 |
| NG_029184.1:g.5043G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220058.9:c.17G>C MANE Select | ENSP00000220058.4:p.Arg6Pro | |
| ENST00000220058.8:c.17G>C | ENSP00000220058.4:p.Arg6Pro | |
| ENST00000543678.1:c.17G>C | ENSP00000443754.1:p.Arg6Pro | |
| ENST00000558460.5:c.17G>C | ENSP00000452646.1:p.Arg6Pro | |
| ENST00000560717.5:c.2G>C | ENSP00000457257.1:p.Arg1Pro | |
| NM_139242.3:c.17G>C | NP_640335.2:p.Arg6Pro | |
| XM_005254158.5:c.17G>C | XP_005254215.2:p.Arg6Pro | |
| XR_001751081.1:n.32G>C | ||
| NM_139242.4:c.17G>C MANE Select | NP_640335.2:p.Arg6Pro |