Linked Data
ClinVar Variation Id:
668854
ClinVar RCV Id:
RCV000827813
dbSNP Id:
rs218674
gnomAD v2:
17-6606933-A-G
gnomAD v3:
17-6703614-A-G
gnomAD v4:
17-6703614-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6703614A>G , CM000679.2:g.6703614A>G | GRCh38 |
| NC_000017.10:g.6606933A>G , CM000679.1:g.6606933A>G | GRCh37 |
| NC_000017.9:g.6547657A>G | NCBI36 |
| NG_034220.1:g.14808T>C , LRG_1020:g.14808T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433363.7:c.547+264T>C MANE Select | ENSP00000406220.2:n.547+264T>C | |
| ENST00000293800.10:c.496+264T>C | ENSP00000293800.6:n.496+264T>C | |
| ENST00000381074.8:c.418+264T>C | ENSP00000370464.4:n.418+264T>C | |
| ENST00000433363.6:c.547+264T>C | ENSP00000406220.2:n.547+264T>C | |
| ENST00000572094.1:c.*297+264T>C | ENSP00000461495.1:n.*297+264T>C | |
| ENST00000572352.5:c.436+264T>C | ENSP00000461622.1:n.436+264T>C | |
| ENST00000573648.5:c.547+264T>C | ENSP00000459372.1:n.547+264T>C | |
| ENST00000574824.5:n.1680+264T>C | ||
| NM_001143838.2:c.547+264T>C | NP_001137310.1:n.547+264T>C | |
| NM_001284509.1:c.496+264T>C | NP_001271438.1:n.496+264T>C | |
| NM_001284510.1:c.418+264T>C | NP_001271439.1:n.418+264T>C | |
| NM_177550.4:c.547+264T>C , LRG_1020t1:c.547+264T>C | NP_808218.1:n.547+264T>C | |
| XM_006721504.2:c.436+264T>C | XP_006721567.1:n.436+264T>C | |
| XM_011523795.1:c.547+264T>C | XP_011522097.1:n.547+264T>C | |
| XM_011523795.3:c.547+264T>C | XP_011522097.1:n.547+264T>C | |
| NM_001143838.3:c.547+264T>C | NP_001137310.1:n.547+264T>C | |
| NM_001284509.2:c.496+264T>C | NP_001271438.1:n.496+264T>C | |
| NM_001284510.2:c.418+264T>C | NP_001271439.1:n.418+264T>C | |
| NM_177550.5:c.547+264T>C MANE Select | NP_808218.1:n.547+264T>C |