Linked Data
ClinVar Variation Id:
314781
dbSNP Id:
rs199727517
ExAC:
14:88892590 G / A
gnomAD v2:
14-88892590-G-A
gnomAD v3:
14-88426246-G-A
gnomAD v4:
14-88426246-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.88426246G>A , CM000676.2:g.88426246G>A | GRCh38 |
| NC_000014.8:g.88892590G>A , CM000676.1:g.88892590G>A | GRCh37 |
| NC_000014.7:g.87962343G>A | NCBI36 |
| NG_021183.1:g.45603G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393545.9:c.387G>A MANE Select | ENSP00000377176.4:p.Pro129= | |
| ENST00000045347.11:c.387G>A | ENSP00000045347.7:p.Pro129= | |
| ENST00000356583.9:c.291G>A | ENSP00000348991.5:p.Pro97= | |
| ENST00000393545.8:c.387G>A | ENSP00000377176.4:p.Pro129= | |
| ENST00000553626.5:n.515G>A | ||
| ENST00000553885.5:c.345G>A | ENSP00000450606.1:p.Pro115= | |
| ENST00000553908.5:c.*262G>A | ENSP00000452546.1:n.*262G>A | |
| ENST00000555401.5:c.216G>A | ENSP00000452435.1:p.Pro72= | |
| ENST00000555515.5:c.*262G>A | ENSP00000450882.1:n.*262G>A | |
| ENST00000555534.5:c.*191G>A | ENSP00000450515.1:n.*191G>A | |
| ENST00000556553.5:c.291G>A | ENSP00000451128.1:p.Pro97= | |
| ENST00000556666.5:n.934G>A | ||
| ENST00000556870.5:c.*191G>A | ENSP00000452359.1:n.*191G>A | |
| ENST00000557248.5:c.*107G>A | ENSP00000451690.1:n.*107G>A | |
| NM_001040428.3:c.291G>A | NP_001035518.1:p.Pro97= | |
| NM_018418.4:c.387G>A | NP_060888.2:p.Pro129= | |
| XM_005267851.1:c.387G>A | XP_005267908.1:p.Pro129= | |
| XM_005267852.1:c.291G>A | XP_005267909.1:p.Pro97= | |
| XM_005267854.1:c.195G>A | XP_005267911.1:p.Pro65= | |
| XM_005267855.1:c.195G>A | XP_005267912.1:p.Pro65= | |
| XM_006720204.1:c.387G>A | XP_006720267.1:p.Pro129= | |
| XM_006720205.1:c.387G>A | XP_006720268.1:p.Pro129= | |
| XM_011536951.1:c.234G>A | XP_011535253.1:p.Pro78= | |
| XM_011536952.1:c.216G>A | XP_011535254.1:p.Pro72= | |
| XM_011536953.1:c.69G>A | XP_011535255.1:p.Pro23= | |
| XM_005267852.2:c.291G>A | XP_005267909.1:p.Pro97= | |
| XM_017021452.1:c.234G>A | XP_016876941.1:p.Pro78= | |
| XM_017021453.1:c.195G>A | XP_016876942.1:p.Pro65= | |
| XM_017021454.1:c.195G>A | XP_016876943.1:p.Pro65= | |
| XM_017021455.1:c.195G>A | XP_016876944.1:p.Pro65= | |
| XM_017021456.1:c.195G>A | XP_016876945.1:p.Pro65= | |
| XM_017021457.1:c.69G>A | XP_016876946.1:p.Pro23= | |
| XM_024449660.1:c.216G>A | XP_024305428.1:p.Pro72= | |
| XR_002957563.1:n.458G>A | ||
| NM_018418.5:c.387G>A MANE Select | NP_060888.2:p.Pro129= | |
| NM_001040428.4:c.291G>A | NP_001035518.1:p.Pro97= |