Linked Data
ClinVar Variation Id:
391313
dbSNP Id:
rs200527262
ExAC:
3:93714795 T / C
gnomAD v2:
3-93714795-T-C
gnomAD v3:
3-93995951-T-C
gnomAD v4:
3-93995951-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93995951T>C , CM000665.2:g.93995951T>C | GRCh38 |
| NC_000003.11:g.93714795T>C , CM000665.1:g.93714795T>C | GRCh37 |
| NC_000003.10:g.95197485T>C | NCBI36 |
| NG_017076.1:g.20813T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394222.8:c.130+7T>C MANE Select | ENSP00000377769.3:n.130+7T>C | |
| ENST00000475206.3:n.225+7T>C | ||
| ENST00000486562.2:c.59+15469T>C | ENSP00000505366.1:n.59+15469T>C | |
| ENST00000492165.3:n.412+7T>C | ||
| ENST00000679404.1:c.55+7T>C | ENSP00000505252.1:n.55+7T>C | |
| ENST00000679587.1:c.130+7T>C | ENSP00000505396.1:n.130+7T>C | |
| ENST00000679601.1:c.130+7T>C | ENSP00000506200.1:n.130+7T>C | |
| ENST00000679607.1:c.-458+7240T>C | ENSP00000505148.1:n.-458+7240T>C | |
| ENST00000679654.1:c.130+7T>C | ENSP00000505178.1:n.130+7T>C | |
| ENST00000679657.1:c.-33+15469T>C | ENSP00000505494.1:n.-33+15469T>C | |
| ENST00000679666.1:c.8+6835T>C | ENSP00000506469.1:n.8+6835T>C | |
| ENST00000679739.1:c.-179-7708T>C | ENSP00000506703.1:n.-179-7708T>C | |
| ENST00000679872.1:c.79+7T>C | ENSP00000505607.1:n.79+7T>C | |
| ENST00000680414.1:c.130+7T>C | ENSP00000506063.1:n.130+7T>C | |
| ENST00000680430.1:c.130+7T>C | ENSP00000504943.1:n.130+7T>C | |
| ENST00000680994.1:n.410+7T>C | ||
| ENST00000681013.1:c.130+7T>C | ENSP00000506243.1:n.130+7T>C | |
| ENST00000681247.1:c.59+15469T>C | ENSP00000505168.1:n.59+15469T>C | |
| ENST00000681380.1:c.130+7T>C | ENSP00000505402.1:n.130+7T>C | |
| ENST00000681655.1:c.55+7T>C | ENSP00000505036.1:n.55+7T>C | |
| ENST00000303097.11:c.59+15469T>C | ENSP00000306225.7:n.59+15469T>C | |
| ENST00000335438.7:c.130+7T>C | ENSP00000335400.3:n.130+7T>C | |
| ENST00000394222.7:c.130+7T>C | ENSP00000377769.3:n.130+7T>C | |
| ENST00000460371.5:c.130+7T>C | ENSP00000417263.1:n.130+7T>C | |
| ENST00000471138.5:c.130+7T>C | ENSP00000420780.1:n.130+7T>C | |
| ENST00000475206.2:n.284+7T>C | ||
| ENST00000478400.3:n.452+7T>C | ||
| ENST00000486562.1:n.336+7T>C | ||
| ENST00000492165.2:n.196-7708T>C | ||
| ENST00000535334.5:c.-179-7708T>C | ENSP00000445145.1:n.-179-7708T>C | |
| NM_001174150.1:c.130+7T>C | NP_001167621.1:n.130+7T>C | |
| NM_001174151.1:c.-179-7708T>C | NP_001167622.1:n.-179-7708T>C | |
| NM_144996.3:c.59+15469T>C | NP_659433.2:n.59+15469T>C | |
| NM_182896.2:c.130+7T>C | NP_878899.1:n.130+7T>C | |
| NR_033427.1:n.415+7T>C | ||
| XM_006713531.2:c.-38+7T>C | XP_006713594.1:n.-38+7T>C | |
| XM_006713532.2:c.-53+7T>C | XP_006713595.1:n.-53+7T>C | |
| XM_011512532.1:c.39+7T>C | XP_011510834.1:n.39+7T>C | |
| XM_011512533.1:c.39+7T>C | XP_011510835.1:n.39+7T>C | |
| XM_011512534.1:c.-38+7T>C | XP_011510836.1:n.-38+7T>C | |
| XM_011512535.1:c.55+7T>C | XP_011510837.1:n.55+7T>C | |
| NM_001321328.1:c.-38+7T>C | NP_001308257.1:n.-38+7T>C | |
| NR_135621.1:n.411+7T>C | ||
| XM_006713532.3:c.-53+7T>C | XP_006713595.1:n.-53+7T>C | |
| XM_011512532.2:c.39+7T>C | XP_011510834.1:n.39+7T>C | |
| XM_011512533.2:c.39+7T>C | XP_011510835.1:n.39+7T>C | |
| XM_011512534.2:c.-38+7T>C | XP_011510836.1:n.-38+7T>C | |
| XM_011512535.2:c.55+7T>C | XP_011510837.1:n.55+7T>C | |
| XM_017005853.1:c.-237+7T>C | XP_016861342.1:n.-237+7T>C | |
| NM_001174150.2:c.130+7T>C MANE Select | NP_001167621.1:n.130+7T>C | |
| NM_001321328.2:c.-38+7T>C | NP_001308257.1:n.-38+7T>C | |
| NM_144996.4:c.59+15469T>C | NP_659433.2:n.59+15469T>C | |
| NM_182896.3:c.130+7T>C | NP_878899.1:n.130+7T>C | |
| NR_033427.2:n.399+7T>C | ||
| NR_135621.2:n.395+7T>C | ||
| NM_001174151.2:c.-179-7708T>C | NP_001167622.1:n.-179-7708T>C |