Linked Data
ClinVar Variation Id:
1606581
ClinVar RCV Id:
RCV002160350
dbSNP Id:
rs765985353
ExAC:
1:224377769 G / A
gnomAD v2:
1-224377769-G-A
gnomAD v4:
1-224190067-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.224190067G>A , CM000663.2:g.224190067G>A | GRCh38 |
| NC_000001.10:g.224377769G>A , CM000663.1:g.224377769G>A | GRCh37 |
| NC_000001.9:g.222444392G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323699.9:c.573G>A MANE Select | ENSP00000316476.4:p.Val191= | |
| ENST00000323699.8:c.573G>A | ENSP00000316476.4:p.Val191= | |
| ENST00000391877.3:c.573G>A | ENSP00000375749.3:p.Val191= | |
| ENST00000415210.5:c.510G>A | ENSP00000400545.1:p.Val170= | |
| NM_003676.3:c.573G>A | NP_003667.1:p.Val191= | |
| XM_011544317.1:c.573G>A | XP_011542619.1:p.Val191= | |
| XM_011544318.1:c.465G>A | XP_011542620.1:p.Val155= | |
| NM_001321541.1:c.573G>A | NP_001308470.1:p.Val191= | |
| NM_001321542.1:c.465G>A | NP_001308471.1:p.Val155= | |
| XM_017002648.2:c.465G>A | XP_016858137.1:p.Val155= | |
| NM_003676.4:c.573G>A MANE Select | NP_003667.1:p.Val191= | |
| NM_001321541.2:c.573G>A | NP_001308470.1:p.Val191= | |
| NM_001321542.2:c.465G>A | NP_001308471.1:p.Val155= |