Linked Data
ClinVar Variation Id:
709296
ClinVar RCV Id:
RCV000880680
dbSNP Id:
rs138969135
ExAC:
17:19611776 C / T
gnomAD v2:
17-19611776-C-T
gnomAD v3:
17-19708463-C-T
gnomAD v4:
17-19708463-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.19708463C>T , CM000679.2:g.19708463C>T | GRCh38 |
| NC_000017.10:g.19611776C>T , CM000679.1:g.19611776C>T | GRCh37 |
| NC_000017.9:g.19552368C>T | NCBI36 |
| NG_052805.1:g.15517G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433844.4:c.532-64G>A MANE Select | ENSP00000391848.3:n.532-64G>A | |
| ENST00000325411.9:c.576G>A | ENSP00000326671.5:p.Pro192= | |
| ENST00000350657.9:c.532-64G>A | ENSP00000338084.6:n.532-64G>A | |
| ENST00000433844.2:c.532-64G>A | ENSP00000391848.2:n.532-64G>A | |
| ENST00000463318.5:n.1278-64G>A | ||
| ENST00000467379.1:n.1672G>A | ||
| ENST00000467609.5:n.543-64G>A | ||
| ENST00000574220.5:n.396-39G>A | ||
| ENST00000574239.5:c.622G>A | ENSP00000458694.1:p.Gly208Arg | |
| NM_001099646.1:c.532-64G>A | NP_001093116.1:n.532-64G>A | |
| NM_001256663.1:c.532-64G>A | NP_001243592.1:n.532-64G>A | |
| NM_152908.3:c.576G>A | NP_690872.2:p.Pro192= | |
| XM_006721455.2:c.532-64G>A | XP_006721518.1:n.532-64G>A | |
| XM_006721457.2:c.532-64G>A | XP_006721520.1:n.532-64G>A | |
| XM_011523672.1:c.490-64G>A | XP_011521974.1:n.490-64G>A | |
| XM_011523673.1:c.385-64G>A | XP_011521975.1:n.385-64G>A | |
| XM_011523674.1:c.385-64G>A | XP_011521976.1:n.385-64G>A | |
| XM_011523675.1:c.532-64G>A | XP_011521977.1:n.532-64G>A | |
| XR_243543.3:n.1141-64G>A | ||
| XR_933998.1:n.641-64G>A | ||
| XR_933999.1:n.641-64G>A | ||
| XR_934000.1:n.641-64G>A | ||
| XR_934001.1:n.641-64G>A | ||
| NR_135624.1:n.1278-64G>A | ||
| NR_135625.1:n.797G>A | ||
| XM_017024221.1:c.576G>A | XP_016879710.1:p.Pro192= | |
| XM_017024222.2:c.429G>A | XP_016879711.1:p.Pro143= | |
| XM_017024223.1:c.576G>A | XP_016879712.1:p.Pro192= | |
| XM_017024224.1:c.576G>A | XP_016879713.1:p.Pro192= | |
| XM_017024225.1:c.576G>A | XP_016879714.1:p.Pro192= | |
| XM_017024226.1:c.576G>A | XP_016879715.1:p.Pro192= | |
| XR_001752432.1:n.685G>A | ||
| XR_001752433.1:n.685G>A | ||
| NM_001099646.2:c.532-64G>A | NP_001093116.1:n.532-64G>A | |
| NM_001256663.2:c.532-64G>A | NP_001243592.1:n.532-64G>A | |
| NM_152908.4:c.576G>A | NP_690872.2:p.Pro192= | |
| NR_135625.2:n.651G>A | ||
| NM_001099646.3:c.532-64G>A MANE Select | NP_001093116.1:n.532-64G>A | |
| NM_001256663.3:c.532-64G>A | NP_001243592.1:n.532-64G>A | |
| NM_152908.5:c.576G>A | NP_690872.2:p.Pro192= | |
| NR_135624.2:n.1278-64G>A | ||
| NR_135625.3:n.651G>A |