Linked Data
ClinVar Variation Id:
314775
dbSNP Id:
rs367830780
ExAC:
14:88857762 G / T
gnomAD v2:
14-88857762-G-T
gnomAD v3:
14-88391418-G-T
gnomAD v4:
14-88391418-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.88391418G>T , CM000676.2:g.88391418G>T | GRCh38 |
| NC_000014.8:g.88857762G>T , CM000676.1:g.88857762G>T | GRCh37 |
| NC_000014.7:g.87927515G>T | NCBI36 |
| NG_021183.1:g.10775G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393545.9:c.57G>T MANE Select | ENSP00000377176.4:p.Pro19= | |
| ENST00000045347.11:c.57G>T | ENSP00000045347.7:p.Pro19= | |
| ENST00000356583.9:c.57G>T | ENSP00000348991.5:p.Pro19= | |
| ENST00000393545.8:c.57G>T | ENSP00000377176.4:p.Pro19= | |
| ENST00000553626.5:n.185G>T | ||
| ENST00000553885.5:c.57G>T | ENSP00000450606.1:p.Pro19= | |
| ENST00000553908.5:c.57G>T | ENSP00000452546.1:p.Pro19= | |
| ENST00000554102.5:n.200G>T | ||
| ENST00000554168.5:c.*110G>T | ENSP00000451663.1:n.*110G>T | |
| ENST00000555356.5:c.*110G>T | ENSP00000450654.1:n.*110G>T | |
| ENST00000555401.5:c.20-4738G>T | ENSP00000452435.1:n.20-4738G>T | |
| ENST00000555515.5:c.57G>T | ENSP00000450882.1:p.Pro19= | |
| ENST00000555534.5:c.57G>T | ENSP00000450515.1:p.Pro19= | |
| ENST00000555715.5:c.57G>T | ENSP00000451181.1:p.Pro19= | |
| ENST00000556553.5:c.57G>T | ENSP00000451128.1:p.Pro19= | |
| ENST00000556870.5:c.57G>T | ENSP00000452359.1:p.Pro19= | |
| ENST00000557248.5:c.57G>T | ENSP00000451690.1:p.Pro19= | |
| ENST00000557567.1:n.176G>T | ||
| ENST00000557724.5:c.*110G>T | ENSP00000452364.1:n.*110G>T | |
| NM_001040428.3:c.57G>T | NP_001035518.1:p.Pro19= | |
| NM_018418.4:c.57G>T | NP_060888.2:p.Pro19= | |
| XM_005267851.1:c.57G>T | XP_005267908.1:p.Pro19= | |
| XM_005267852.1:c.57G>T | XP_005267909.1:p.Pro19= | |
| XM_005267854.1:c.-198G>T | XP_005267911.1:n.-198G>T | |
| XM_005267855.1:c.-102G>T | XP_005267912.1:n.-102G>T | |
| XM_006720204.1:c.57G>T | XP_006720267.1:p.Pro19= | |
| XM_006720205.1:c.57G>T | XP_006720268.1:p.Pro19= | |
| XM_011536951.1:c.-97G>T | XP_011535253.1:n.-97G>T | |
| XM_011536952.1:c.20-4738G>T | XP_011535254.1:n.20-4738G>T | |
| XM_011536953.1:c.-166G>T | XP_011535255.1:n.-166G>T | |
| XM_005267852.2:c.57G>T | XP_005267909.1:p.Pro19= | |
| XM_017021452.1:c.-97G>T | XP_016876941.1:n.-97G>T | |
| XM_017021453.1:c.-102G>T | XP_016876942.1:n.-102G>T | |
| XM_017021454.1:c.-198G>T | XP_016876943.1:n.-198G>T | |
| XM_017021455.1:c.-102G>T | XP_016876944.1:n.-102G>T | |
| XM_017021456.1:c.-198G>T | XP_016876945.1:n.-198G>T | |
| XM_017021457.1:c.-166G>T | XP_016876946.1:n.-166G>T | |
| XM_024449660.1:c.20-4738G>T | XP_024305428.1:n.20-4738G>T | |
| XR_002957563.1:n.224G>T | ||
| NM_018418.5:c.57G>T MANE Select | NP_060888.2:p.Pro19= | |
| NM_001040428.4:c.57G>T | NP_001035518.1:p.Pro19= |