Linked Data
ClinVar Variation Id:
670096
ClinVar RCV Id:
RCV000829227
dbSNP Id:
rs218676
gnomAD v2:
17-6607018-G-A
gnomAD v3:
17-6703699-G-A
gnomAD v4:
17-6703699-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6703699G>A , CM000679.2:g.6703699G>A | GRCh38 |
| NC_000017.10:g.6607018G>A , CM000679.1:g.6607018G>A | GRCh37 |
| NC_000017.9:g.6547742G>A | NCBI36 |
| NG_034220.1:g.14723C>T , LRG_1020:g.14723C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000433363.7:c.547+179C>T MANE Select | ENSP00000406220.2:n.547+179C>T | |
| ENST00000293800.10:c.496+179C>T | ENSP00000293800.6:n.496+179C>T | |
| ENST00000381074.8:c.418+179C>T | ENSP00000370464.4:n.418+179C>T | |
| ENST00000433363.6:c.547+179C>T | ENSP00000406220.2:n.547+179C>T | |
| ENST00000572094.1:c.*297+179C>T | ENSP00000461495.1:n.*297+179C>T | |
| ENST00000572352.5:c.436+179C>T | ENSP00000461622.1:n.436+179C>T | |
| ENST00000573648.5:c.547+179C>T | ENSP00000459372.1:n.547+179C>T | |
| ENST00000574824.5:n.1680+179C>T | ||
| NM_001143838.2:c.547+179C>T | NP_001137310.1:n.547+179C>T | |
| NM_001284509.1:c.496+179C>T | NP_001271438.1:n.496+179C>T | |
| NM_001284510.1:c.418+179C>T | NP_001271439.1:n.418+179C>T | |
| NM_177550.4:c.547+179C>T , LRG_1020t1:c.547+179C>T | NP_808218.1:n.547+179C>T | |
| XM_006721504.2:c.436+179C>T | XP_006721567.1:n.436+179C>T | |
| XM_011523795.1:c.547+179C>T | XP_011522097.1:n.547+179C>T | |
| XM_011523795.3:c.547+179C>T | XP_011522097.1:n.547+179C>T | |
| NM_001143838.3:c.547+179C>T | NP_001137310.1:n.547+179C>T | |
| NM_001284509.2:c.496+179C>T | NP_001271438.1:n.496+179C>T | |
| NM_001284510.2:c.418+179C>T | NP_001271439.1:n.418+179C>T | |
| NM_177550.5:c.547+179C>T MANE Select | NP_808218.1:n.547+179C>T |