Linked Data
ClinVar Variation Id:
1267461
ClinVar RCV Id:
RCV001677486
dbSNP Id:
rs1800680
gnomAD v2:
1-227075984-G-A
gnomAD v3:
1-226888283-G-A
gnomAD v4:
1-226888283-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.226888283G>A , CM000663.2:g.226888283G>A | GRCh38 |
| NC_000001.10:g.227075984G>A , CM000663.1:g.227075984G>A | GRCh37 |
| NC_000001.9:g.225142607G>A | NCBI36 |
| NG_007381.1:g.22712G>A | |
| NG_007381.2:g.23100G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366779.6:c.566+125G>A | ENSP00000355741.2:n.566+125G>A | |
| ENST00000366782.6:c.566+125G>A | ENSP00000355746.2:n.566+125G>A | |
| ENST00000366783.8:c.566+125G>A MANE Select | ENSP00000355747.3:n.566+125G>A | |
| ENST00000524196.6:c.566+125G>A | ENSP00000429036.2:n.566+125G>A | |
| ENST00000626989.3:c.566+125G>A | ENSP00000486498.2:n.566+125G>A | |
| ENST00000676467.1:c.*396+125G>A | ENSP00000504294.1:n.*396+125G>A | |
| ENST00000676747.1:c.566+125G>A | ENSP00000503244.1:n.566+125G>A | |
| ENST00000676840.1:c.566+125G>A | ENSP00000504318.1:n.566+125G>A | |
| ENST00000676884.1:c.566+125G>A | ENSP00000503200.1:n.566+125G>A | |
| ENST00000676888.1:c.566+125G>A | ENSP00000504483.1:n.566+125G>A | |
| ENST00000676907.1:c.*145+125G>A | ENSP00000504410.1:n.*145+125G>A | |
| ENST00000676945.1:c.566+125G>A | ENSP00000504433.1:n.566+125G>A | |
| ENST00000677065.1:n.1127+125G>A | ||
| ENST00000677414.1:c.566+125G>A | ENSP00000503116.1:n.566+125G>A | |
| ENST00000677529.1:n.1004+125G>A | ||
| ENST00000677596.1:c.*473+125G>A | ENSP00000503618.1:n.*473+125G>A | |
| ENST00000677599.1:c.566+125G>A | ENSP00000503673.1:n.566+125G>A | |
| ENST00000677748.1:n.1004+125G>A | ||
| ENST00000677880.1:c.134+125G>A | ENSP00000503121.1:n.134+125G>A | |
| ENST00000678021.1:c.*189+125G>A | ENSP00000504674.1:n.*189+125G>A | |
| ENST00000678233.1:c.566+125G>A | ENSP00000504728.1:n.566+125G>A | |
| ENST00000678320.1:c.566+125G>A | ENSP00000503680.1:n.566+125G>A | |
| ENST00000678655.1:c.566+125G>A | ENSP00000504230.1:n.566+125G>A | |
| ENST00000678706.1:c.566+125G>A | ENSP00000503659.1:n.566+125G>A | |
| ENST00000678776.1:c.*396+125G>A | ENSP00000504624.1:n.*396+125G>A | |
| ENST00000678784.1:c.566+125G>A | ENSP00000504652.1:n.566+125G>A | |
| ENST00000678820.1:c.566+125G>A | ENSP00000504138.1:n.566+125G>A | |
| ENST00000678835.1:c.566+125G>A | ENSP00000504343.1:n.566+125G>A | |
| ENST00000679088.1:c.566+125G>A | ENSP00000504727.1:n.566+125G>A | |
| ENST00000679098.1:c.566+125G>A | ENSP00000504303.1:n.566+125G>A | |
| ENST00000366782.5:c.665+125G>A | ENSP00000355746.1:n.665+125G>A | |
| ENST00000366783.7:c.566+125G>A | ENSP00000355747.3:n.566+125G>A | |
| ENST00000422240.6:c.566+125G>A | ENSP00000403737.2:n.566+125G>A | |
| ENST00000460775.5:c.47+125G>A | ENSP00000427912.1:n.47+125G>A | |
| ENST00000472139.2:c.134+125G>A | ENSP00000427806.1:n.134+125G>A | |
| ENST00000626989.2:c.665+125G>A | ENSP00000486498.1:n.665+125G>A | |
| NM_000447.2:c.566+125G>A | NP_000438.2:n.566+125G>A | |
| NM_012486.2:c.566+125G>A | NP_036618.2:n.566+125G>A | |
| XM_005273199.2:c.566+125G>A | XP_005273256.1:n.566+125G>A | |
| XM_011544236.1:c.134+125G>A | XP_011542538.1:n.134+125G>A | |
| XR_949149.1:n.993+125G>A | ||
| XR_949150.1:n.993+125G>A | ||
| XM_005273199.4:c.566+125G>A | XP_005273256.1:n.566+125G>A | |
| XM_017001835.1:c.566+125G>A | XP_016857324.1:n.566+125G>A | |
| XM_017001836.1:c.566+125G>A | XP_016857325.1:n.566+125G>A | |
| XR_001737316.2:n.971+125G>A | ||
| XR_001737317.2:n.971+125G>A | ||
| XR_001737318.2:n.971+125G>A | ||
| XR_001737319.1:n.1314+125G>A | ||
| XR_001737320.1:n.1314+125G>A | ||
| XR_001737321.1:n.806+125G>A | ||
| XR_949149.2:n.971+125G>A | ||
| XR_949150.3:n.971+125G>A | ||
| NM_000447.3:c.566+125G>A MANE Select | NP_000438.2:n.566+125G>A | |
| NM_012486.3:c.566+125G>A | NP_036618.2:n.566+125G>A |