Linked Data
ClinVar Variation Id:
45597
dbSNP Id:
rs367598954
ExAC:
10:75871653 C / T
gnomAD v2:
10-75871653-C-T
gnomAD v3:
10-74111895-C-T
gnomAD v4:
10-74111895-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.74111895C>T , CM000672.2:g.74111895C>T | GRCh38 |
| NC_000010.10:g.75871653C>T , CM000672.1:g.75871653C>T | GRCh37 |
| NC_000010.9:g.75541659C>T | NCBI36 |
| NG_008868.1:g.118782C>T , LRG_383:g.118782C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000211998.10:c.2746-14C>T MANE Select | ENSP00000211998.5:n.2746-14C>T | |
| ENST00000211998.8:c.2746-14C>T | ENSP00000211998.4:n.2746-14C>T | |
| ENST00000372755.7:c.2746-2289C>T | ENSP00000361841.3:n.2746-2289C>T | |
| ENST00000436396.1:c.1762-14C>T | ENSP00000415489.1:n.1762-14C>T | |
| ENST00000623461.3:n.5549-2289C>T | ||
| ENST00000624354.3:c.*2501-14C>T | ENSP00000485551.1:n.*2501-14C>T | |
| NM_003373.3:c.2746-2289C>T | NP_003364.1:n.2746-2289C>T | |
| NM_014000.2:c.2746-14C>T , LRG_383t1:c.2746-14C>T | NP_054706.1:n.2746-14C>T | |
| XM_005270142.1:c.2749-14C>T | XP_005270199.1:n.2749-14C>T | |
| XM_005270143.1:c.2749-2289C>T | XP_005270200.1:n.2749-2289C>T | |
| NM_003373.4:c.2746-2289C>T | NP_003364.1:n.2746-2289C>T | |
| NM_014000.3:c.2746-14C>T MANE Select | NP_054706.1:n.2746-14C>T |