Linked Data
ClinVar Variation Id:
314477
ClinVar RCV Id:
RCV000313939
dbSNP Id:
rs181925962
gnomAD v2:
14-76837825-C-T
gnomAD v3:
14-76371482-C-T
gnomAD v4:
14-76371482-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.76371482C>T , CM000676.2:g.76371482C>T | GRCh38 |
| NC_000014.8:g.76837825C>T , CM000676.1:g.76837825C>T | GRCh37 |
| NC_000014.7:g.75907578C>T | NCBI36 |
| NG_012278.1:g.5136C>T | |
| NG_012278.2:g.5136C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380887.7:c.-236C>T | ENSP00000370270.2:n.-236C>T | |
| ENST00000505752.6:c.-236C>T | ENSP00000423004.1:n.-236C>T | |
| ENST00000512784.6:c.2+60566C>T | ENSP00000424992.2:n.2+60566C>T | |
| ENST00000505752.5:c.-236C>T | ENSP00000423004.1:n.-236C>T | |
| ENST00000512784.5:c.2+60566C>T | ENSP00000424992.1:n.2+60566C>T | |
| NM_004452.3:c.-236C>T | NP_004443.3:n.-236C>T | |
| XM_011536548.1:c.-236C>T | XP_011534850.1:n.-236C>T | |
| NM_004452.4:c.-236C>T | NP_004443.3:n.-236C>T |