Linked Data
ClinVar Variation Id:
1686226
ClinVar RCV Id:
RCV002246739
dbSNP Id:
rs866837129
gnomAD v3:
14-88385839-T-A
gnomAD v4:
14-88385839-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.88385839T>A , CM000676.2:g.88385839T>A | GRCh38 |
| NC_000014.8:g.88852183T>A , CM000676.1:g.88852183T>A | GRCh37 |
| NC_000014.7:g.87921936T>A | NCBI36 |
| NG_021183.1:g.5196T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393545.9:c.19+2T>A MANE Select | ENSP00000377176.4:n.19+2T>A | |
| ENST00000045347.11:c.19+2T>A | ENSP00000045347.7:n.19+2T>A | |
| ENST00000356583.9:c.19+2T>A | ENSP00000348991.5:n.19+2T>A | |
| ENST00000393545.8:c.19+2T>A | ENSP00000377176.4:n.19+2T>A | |
| ENST00000553626.5:n.147+2T>A | ||
| ENST00000553885.5:c.19+2T>A | ENSP00000450606.1:n.19+2T>A | |
| ENST00000553908.5:c.19+2T>A | ENSP00000452546.1:n.19+2T>A | |
| ENST00000554102.5:n.162+2T>A | ||
| ENST00000554168.5:c.21T>A | ENSP00000451663.1:p.Gly7= | |
| ENST00000555356.5:c.21T>A | ENSP00000450654.1:p.Gly7= | |
| ENST00000555401.5:c.19+2T>A | ENSP00000452435.1:n.19+2T>A | |
| ENST00000555515.5:c.19+2T>A | ENSP00000450882.1:n.19+2T>A | |
| ENST00000555534.5:c.19+2T>A | ENSP00000450515.1:n.19+2T>A | |
| ENST00000555715.5:c.19+2T>A | ENSP00000451181.1:n.19+2T>A | |
| ENST00000556553.5:c.19+2T>A | ENSP00000451128.1:n.19+2T>A | |
| ENST00000556870.5:c.19+2T>A | ENSP00000452359.1:n.19+2T>A | |
| ENST00000557248.5:c.19+2T>A | ENSP00000451690.1:n.19+2T>A | |
| ENST00000557567.1:n.138+2T>A | ||
| ENST00000557724.5:c.21T>A | ENSP00000452364.1:p.Gly7= | |
| NM_001040428.3:c.19+2T>A | NP_001035518.1:n.19+2T>A | |
| NM_018418.4:c.19+2T>A | NP_060888.2:n.19+2T>A | |
| XM_005267851.1:c.19+2T>A | XP_005267908.1:n.19+2T>A | |
| XM_005267852.1:c.19+2T>A | XP_005267909.1:n.19+2T>A | |
| XM_005267854.1:c.-236+2T>A | XP_005267911.1:n.-236+2T>A | |
| XM_005267855.1:c.-140+2T>A | XP_005267912.1:n.-140+2T>A | |
| XM_006720204.1:c.19+2T>A | XP_006720267.1:n.19+2T>A | |
| XM_006720205.1:c.19+2T>A | XP_006720268.1:n.19+2T>A | |
| XM_011536951.1:c.-327T>A | XP_011535253.1:n.-327T>A | |
| XM_011536952.1:c.19+2T>A | XP_011535254.1:n.19+2T>A | |
| XM_011536953.1:c.-396T>A | XP_011535255.1:n.-396T>A | |
| XM_005267852.2:c.19+2T>A | XP_005267909.1:n.19+2T>A | |
| XM_017021452.1:c.-327T>A | XP_016876941.1:n.-327T>A | |
| XM_017021453.1:c.-332T>A | XP_016876942.1:n.-332T>A | |
| XM_017021454.1:c.-236+2T>A | XP_016876943.1:n.-236+2T>A | |
| XM_017021455.1:c.-140+2T>A | XP_016876944.1:n.-140+2T>A | |
| XM_017021457.1:c.-396T>A | XP_016876946.1:n.-396T>A | |
| XM_024449660.1:c.19+2T>A | XP_024305428.1:n.19+2T>A | |
| XR_002957563.1:n.186+2T>A | ||
| NM_018418.5:c.19+2T>A MANE Select | NP_060888.2:n.19+2T>A | |
| NM_001040428.4:c.19+2T>A | NP_001035518.1:n.19+2T>A |