Linked Data
ClinVar Variation Id:
1225619
ClinVar RCV Id:
RCV001611185
dbSNP Id:
rs2273419
gnomAD v2:
14-69350761-G-T
gnomAD v3:
14-68884044-G-T
gnomAD v4:
14-68884044-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.68884044G>T , CM000676.2:g.68884044G>T | GRCh38 |
| NC_000014.8:g.69350761G>T , CM000676.1:g.69350761G>T | GRCh37 |
| NC_000014.7:g.68420514G>T | NCBI36 |
| NG_029480.1:g.100323C>A , LRG_886:g.100323C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682130.1:n.1923+124C>A | ||
| ENST00000682291.1:c.1635+124C>A | ENSP00000507093.1:n.1635+124C>A | |
| ENST00000682298.1:n.2008+124C>A | ||
| ENST00000682331.1:c.1635+124C>A | ENSP00000508329.1:n.1635+124C>A | |
| ENST00000682378.1:n.1923+124C>A | ||
| ENST00000682381.1:n.1923+124C>A | ||
| ENST00000682522.1:n.1524+124C>A | ||
| ENST00000682559.1:c.*1088+124C>A | ENSP00000507271.1:n.*1088+124C>A | |
| ENST00000683069.1:n.1835+124C>A | ||
| ENST00000683198.1:c.1659+124C>A | ENSP00000507889.1:n.1659+124C>A | |
| ENST00000683225.1:c.1440+124C>A | ENSP00000506977.1:n.1440+124C>A | |
| ENST00000683267.1:c.*913+124C>A | ENSP00000508356.1:n.*913+124C>A | |
| ENST00000683342.1:c.1635+124C>A | ENSP00000508301.1:n.1635+124C>A | |
| ENST00000683780.1:n.2481+124C>A | ||
| ENST00000684146.1:n.1923+124C>A | ||
| ENST00000684182.1:c.1440+124C>A | ENSP00000508177.1:n.1440+124C>A | |
| ENST00000684287.1:n.901+124C>A | ||
| ENST00000684340.1:n.1923+124C>A | ||
| ENST00000684598.1:c.1635+124C>A | ENSP00000507785.1:n.1635+124C>A | |
| ENST00000684638.1:c.*913+124C>A | ENSP00000507609.1:n.*913+124C>A | |
| ENST00000684639.1:c.1515+124C>A | ENSP00000507653.1:n.1515+124C>A | |
| ENST00000684713.1:c.1542+124C>A | ENSP00000507155.1:n.1542+124C>A | |
| ENST00000394419.9:c.1635+124C>A MANE Select | ENSP00000377941.4:n.1635+124C>A | |
| ENST00000679147.1:c.1659+124C>A | ENSP00000504355.1:n.1659+124C>A | |
| ENST00000193403.10:c.1635+124C>A | ENSP00000193403.6:n.1635+124C>A | |
| ENST00000376839.7:c.1440+124C>A | ENSP00000366035.3:n.1440+124C>A | |
| ENST00000394419.8:c.1635+124C>A | ENSP00000377941.4:n.1635+124C>A | |
| ENST00000438964.6:c.1635+124C>A | ENSP00000414272.2:n.1635+124C>A | |
| ENST00000538545.6:c.1635+124C>A | ENSP00000439828.2:n.1635+124C>A | |
| ENST00000544964.6:c.405+124C>A | ENSP00000444422.2:n.405+124C>A | |
| ENST00000553290.1:c.136+124C>A | ||
| ENST00000556083.1:n.3089+124C>A | ||
| ENST00000556343.1:n.128+124C>A | ||
| NM_001102.3:c.1635+124C>A | NP_001093.1:n.1635+124C>A | |
| NM_001130004.1:c.1635+124C>A , LRG_886t1:c.1635+124C>A | NP_001123476.1:n.1635+124C>A | |
| NM_001130005.1:c.1635+124C>A | NP_001123477.1:n.1635+124C>A | |
| XM_011537265.1:c.1746+124C>A | XP_011535567.1:n.1746+124C>A | |
| XM_011537266.1:c.1746+124C>A | XP_011535568.1:n.1746+124C>A | |
| XM_011537267.1:c.1722+124C>A | XP_011535569.1:n.1722+124C>A | |
| XM_011537268.1:c.1722+124C>A | XP_011535570.1:n.1722+124C>A | |
| XM_011537269.1:c.1659+124C>A | XP_011535571.1:n.1659+124C>A | |
| XM_011537270.1:c.1596+124C>A | XP_011535572.1:n.1596+124C>A | |
| XM_011537271.1:c.1572+124C>A | XP_011535573.1:n.1572+124C>A | |
| XM_011537265.2:c.1746+124C>A | XP_011535567.1:n.1746+124C>A | |
| XM_011537266.3:c.1746+124C>A | XP_011535568.1:n.1746+124C>A | |
| XM_011537267.3:c.1722+124C>A | XP_011535569.1:n.1722+124C>A | |
| XM_011537268.3:c.1722+124C>A | XP_011535570.1:n.1722+124C>A | |
| XM_017021720.1:c.1746+124C>A | XP_016877209.1:n.1746+124C>A | |
| XM_017021721.2:c.1722+124C>A | XP_016877210.1:n.1722+124C>A | |
| XM_017021722.2:c.1659+124C>A | XP_016877211.1:n.1659+124C>A | |
| XM_017021723.2:c.1635+124C>A | XP_016877212.1:n.1635+124C>A | |
| XM_017021725.1:c.1596+124C>A | XP_016877214.1:n.1596+124C>A | |
| XM_017021726.2:c.1572+124C>A | XP_016877215.1:n.1572+124C>A | |
| XM_017021727.2:c.1659+124C>A | XP_016877216.1:n.1659+124C>A | |
| XM_017021728.2:c.1572+124C>A | XP_016877217.1:n.1572+124C>A | |
| NM_001102.4:c.1635+124C>A | NP_001093.1:n.1635+124C>A | |
| NM_001130005.2:c.1635+124C>A | NP_001123477.1:n.1635+124C>A | |
| NM_001130004.2:c.1635+124C>A MANE Select | NP_001123476.1:n.1635+124C>A |