Linked Data
ClinVar Variation Id:
416458
dbSNP Id:
rs28757011
ExAC:
14:75506696 C / T
gnomAD v2:
14-75506696-C-T
gnomAD v3:
14-75039993-C-T
gnomAD v4:
14-75039993-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75039993C>T , CM000676.2:g.75039993C>T | GRCh38 |
| NC_000014.8:g.75506696C>T , CM000676.1:g.75506696C>T | GRCh37 |
| NC_000014.7:g.74576449C>T | NCBI36 |
| NG_008649.1:g.16540G>A , LRG_217:g.16540G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355774.7:c.3488G>A MANE Select | ENSP00000348020.2:p.Gly1163Asp | |
| ENST00000355774.6:c.3488G>A | ENSP00000348020.2:p.Gly1163Asp | |
| ENST00000380968.6:c.3488G>A | ENSP00000370355.3:p.Gly1163Asp | |
| ENST00000553713.5:c.559G>A | ||
| ENST00000555144.5:c.452-1581G>A | ||
| ENST00000555499.1:n.198+1622G>A | ||
| ENST00000555671.1:n.849G>A | ||
| ENST00000556257.5:c.3280+6383G>A | ENSP00000451540.1:n.3280+6383G>A | |
| ENST00000556453.5:c.178G>A | ||
| ENST00000556740.5:c.3488G>A | ENSP00000452316.1:p.Gly1163Asp | |
| NM_001040108.1:c.3488G>A , LRG_217t1:c.3488G>A | NP_001035197.1:p.Gly1163Asp | |
| NM_014381.2:c.3488G>A | NP_055196.2:p.Gly1163Asp | |
| XM_005267531.3:c.3488G>A | XP_005267588.1:p.Gly1163Asp | |
| XM_005267532.3:c.3466-1581G>A | XP_005267589.1:n.3466-1581G>A | |
| XM_005267533.3:c.3466-1581G>A | XP_005267590.1:n.3466-1581G>A | |
| XM_005267534.2:c.3488G>A | XP_005267591.1:p.Gly1163Asp | |
| XM_006720116.2:c.3488G>A | XP_006720179.1:p.Gly1163Asp | |
| XM_011536646.1:c.3488G>A | XP_011534948.1:p.Gly1163Asp | |
| XM_011536647.1:c.3488G>A | XP_011534949.1:p.Gly1163Asp | |
| XM_011536648.1:c.*23G>A | XP_011534950.1:n.*23G>A | |
| XR_245681.2:n.3704G>A | ||
| XM_005267532.5:c.3466-1581G>A | XP_005267589.1:n.3466-1581G>A | |
| XM_005267533.5:c.3466-1581G>A | XP_005267590.1:n.3466-1581G>A | |
| XM_005267534.3:c.3488G>A | XP_005267591.1:p.Gly1163Asp | |
| XM_006720116.4:c.3488G>A | XP_006720179.1:p.Gly1163Asp | |
| XM_011536646.3:c.3488G>A | XP_011534948.1:p.Gly1163Asp | |
| XM_017021219.2:c.3488G>A | XP_016876708.1:p.Gly1163Asp | |
| XM_024449538.1:c.3466-1581G>A | XP_024305306.1:n.3466-1581G>A | |
| XM_024449539.1:c.-65G>A | XP_024305307.1:n.-65G>A | |
| XR_001750225.2:n.3651G>A | ||
| XR_001750227.2:n.3651G>A | ||
| XR_001750228.2:n.3651G>A | ||
| XR_001750229.2:n.3629-1581G>A | ||
| XR_001750230.2:n.3629-1581G>A | ||
| XR_002957544.1:n.3660G>A | ||
| XR_245681.4:n.3651G>A | ||
| NM_001040108.2:c.3488G>A MANE Select | NP_001035197.1:p.Gly1163Asp | |
| NM_014381.3:c.3488G>A | NP_055196.2:p.Gly1163Asp |