Linked Data
ClinVar Variation Id:
414515
dbSNP Id:
rs374863127
ExAC:
4:55133711 C / T
gnomAD v2:
4-55133711-C-T
gnomAD v3:
4-54267544-C-T
gnomAD v4:
4-54267544-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54267544C>T , CM000666.2:g.54267544C>T | GRCh38 |
| NC_000004.11:g.55133711C>T , CM000666.1:g.55133711C>T | GRCh37 |
| NC_000004.10:g.54828468C>T | NCBI36 |
| NG_009250.1:g.43448C>T , LRG_309:g.43448C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257290.10:c.932-8C>T MANE Select | ENSP00000257290.5:n.932-8C>T | |
| ENST00000257290.9:c.932-8C>T | ENSP00000257290.5:n.932-8C>T | |
| ENST00000507166.5:c.1018-7381C>T | ENSP00000423325.1:n.1018-7381C>T | |
| ENST00000509092.5:n.750-8C>T | ||
| ENST00000509490.5:c.932-8C>T | ENSP00000424218.1:n.932-8C>T | |
| NM_006206.4:c.932-8C>T , LRG_309t1:c.932-8C>T | NP_006197.1:n.932-8C>T | |
| XM_005265743.1:c.932-8C>T | XP_005265800.1:n.932-8C>T | |
| XM_006714039.2:c.1007-8C>T | XP_006714102.1:n.1007-8C>T | |
| XM_006714041.2:c.1007-8C>T | XP_006714104.1:n.1007-8C>T | |
| XM_011534385.1:c.932-8C>T | XP_011532687.1:n.932-8C>T | |
| XM_011534386.1:c.932-8C>T | XP_011532688.1:n.932-8C>T | |
| NM_001347827.1:c.932-8C>T | NP_001334756.1:n.932-8C>T | |
| NM_001347828.1:c.1007-8C>T | NP_001334757.1:n.1007-8C>T | |
| NM_001347829.1:c.932-8C>T | NP_001334758.1:n.932-8C>T | |
| NM_001347830.1:c.971-8C>T | NP_001334759.1:n.971-8C>T | |
| NM_006206.5:c.932-8C>T | NP_006197.1:n.932-8C>T | |
| XM_006714041.3:c.1007-8C>T | XP_006714104.1:n.1007-8C>T | |
| XM_017008281.1:c.971-8C>T | XP_016863770.1:n.971-8C>T | |
| NM_006206.6:c.932-8C>T MANE Select | NP_006197.1:n.932-8C>T | |
| NM_001347827.2:c.932-8C>T | NP_001334756.1:n.932-8C>T | |
| NM_001347828.2:c.1007-8C>T | NP_001334757.1:n.1007-8C>T | |
| NM_001347829.2:c.932-8C>T | NP_001334758.1:n.932-8C>T | |
| NM_001347830.2:c.971-8C>T | NP_001334759.1:n.971-8C>T |