Linked Data
ClinVar Variation Id:
1155735
ClinVar RCV Id:
RCV001498166
dbSNP Id:
rs1344410522
gnomAD v2:
4-995946-G-A
gnomAD v4:
4-1002158-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1002158G>A , CM000666.2:g.1002158G>A | GRCh38 |
| NC_000004.11:g.995946G>A , CM000666.1:g.995946G>A | GRCh37 |
| NC_000004.10:g.985946G>A | NCBI36 |
| NG_008103.1:g.20162G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.969G>A | ENSP00000247933.4:p.Val323= | |
| ENST00000514224.2:c.969G>A MANE Select | ENSP00000425081.2:p.Val323= | |
| ENST00000652070.1:n.1025G>A | ||
| ENST00000247933.8:c.969G>A | ENSP00000247933.4:p.Val323= | |
| ENST00000514224.1:c.573G>A | ENSP00000425081.1:p.Val191= | |
| ENST00000514698.5:n.969G>A | ||
| NM_000203.4:c.969G>A | NP_000194.2:p.Val323= | |
| NR_110313.1:n.1057G>A | ||
| XM_006713882.2:c.573G>A | XP_006713945.1:p.Val191= | |
| XM_011513459.1:c.928G>A | XP_011511761.1:p.Glu310Lys | |
| XM_011513460.1:c.828G>A | XP_011511762.1:p.Val276= | |
| XM_011513461.1:c.762G>A | XP_011511763.1:p.Val254= | |
| XM_011513462.1:c.681G>A | XP_011511764.1:p.Val227= | |
| XM_011513463.1:c.681G>A | XP_011511765.1:p.Val227= | |
| XR_924947.1:n.1038G>A | ||
| NM_000203.5:c.969G>A MANE Select | NP_000194.2:p.Val323= | |
| NM_001363576.1:c.573G>A | NP_001350505.1:p.Val191= | |
| XM_011513461.2:c.762G>A | XP_011511763.1:p.Val254= | |
| XM_017008163.1:c.9G>A | XP_016863652.1:p.Val3= |