Linked Data
ClinVar Variation Id:
314776
dbSNP Id:
rs60770744
ExAC:
14:88862486 C / A
gnomAD v2:
14-88862486-C-A
gnomAD v3:
14-88396142-C-A
gnomAD v4:
14-88396142-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.88396142C>A , CM000676.2:g.88396142C>A | GRCh38 |
| NC_000014.8:g.88862486C>A , CM000676.1:g.88862486C>A | GRCh37 |
| NC_000014.7:g.87932239C>A | NCBI36 |
| NG_021183.1:g.15499C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000393545.9:c.191-14C>A MANE Select | ENSP00000377176.4:n.191-14C>A | |
| ENST00000045347.11:c.191-14C>A | ENSP00000045347.7:n.191-14C>A | |
| ENST00000356583.9:c.95-14C>A | ENSP00000348991.5:n.95-14C>A | |
| ENST00000393545.8:c.191-14C>A | ENSP00000377176.4:n.191-14C>A | |
| ENST00000553626.5:n.319-14C>A | ||
| ENST00000553885.5:c.95-14C>A | ENSP00000450606.1:n.95-14C>A | |
| ENST00000553908.5:c.95-14C>A | ENSP00000452546.1:n.95-14C>A | |
| ENST00000554102.5:n.334-14C>A | ||
| ENST00000554168.5:c.*148-14C>A | ENSP00000451663.1:n.*148-14C>A | |
| ENST00000555356.5:c.*148-14C>A | ENSP00000450654.1:n.*148-14C>A | |
| ENST00000555401.5:c.20-14C>A | ENSP00000452435.1:n.20-14C>A | |
| ENST00000555515.5:c.191-14C>A | ENSP00000450882.1:n.191-14C>A | |
| ENST00000555534.5:c.191-14C>A | ENSP00000450515.1:n.191-14C>A | |
| ENST00000555715.5:c.*223-14C>A | ENSP00000451181.1:n.*223-14C>A | |
| ENST00000556553.5:c.95-14C>A | ENSP00000451128.1:n.95-14C>A | |
| ENST00000556870.5:c.95-14C>A | ENSP00000452359.1:n.95-14C>A | |
| ENST00000557248.5:c.191-14C>A | ENSP00000451690.1:n.191-14C>A | |
| ENST00000557724.5:c.*244-14C>A | ENSP00000452364.1:n.*244-14C>A | |
| NM_001040428.3:c.95-14C>A | NP_001035518.1:n.95-14C>A | |
| NM_018418.4:c.191-14C>A | NP_060888.2:n.191-14C>A | |
| XM_005267851.1:c.191-14C>A | XP_005267908.1:n.191-14C>A | |
| XM_005267852.1:c.95-14C>A | XP_005267909.1:n.95-14C>A | |
| XM_005267854.1:c.-64-14C>A | XP_005267911.1:n.-64-14C>A | |
| XM_005267855.1:c.-64-14C>A | XP_005267912.1:n.-64-14C>A | |
| XM_006720204.1:c.191-14C>A | XP_006720267.1:n.191-14C>A | |
| XM_006720205.1:c.191-14C>A | XP_006720268.1:n.191-14C>A | |
| XM_011536951.1:c.38-14C>A | XP_011535253.1:n.38-14C>A | |
| XM_011536952.1:c.20-14C>A | XP_011535254.1:n.20-14C>A | |
| XM_011536953.1:c.-128-14C>A | XP_011535255.1:n.-128-14C>A | |
| XM_005267852.2:c.95-14C>A | XP_005267909.1:n.95-14C>A | |
| XM_017021452.1:c.38-14C>A | XP_016876941.1:n.38-14C>A | |
| XM_017021453.1:c.-64-14C>A | XP_016876942.1:n.-64-14C>A | |
| XM_017021454.1:c.-64-14C>A | XP_016876943.1:n.-64-14C>A | |
| XM_017021455.1:c.-64-14C>A | XP_016876944.1:n.-64-14C>A | |
| XM_017021456.1:c.-64-14C>A | XP_016876945.1:n.-64-14C>A | |
| XM_017021457.1:c.-128-14C>A | XP_016876946.1:n.-128-14C>A | |
| XM_024449660.1:c.20-14C>A | XP_024305428.1:n.20-14C>A | |
| XR_002957563.1:n.262-14C>A | ||
| NM_018418.5:c.191-14C>A MANE Select | NP_060888.2:n.191-14C>A | |
| NM_001040428.4:c.95-14C>A | NP_001035518.1:n.95-14C>A |