Linked Data
ClinVar Variation Id:
1897060
ClinVar RCV Id:
RCV002576220
dbSNP Id:
rs776379559
ExAC:
14:21780576 C / T
gnomAD v2:
14-21780576-C-T
gnomAD v4:
14-21312417-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21312417C>T , CM000676.2:g.21312417C>T | GRCh38 |
| NC_000014.8:g.21780576C>T , CM000676.1:g.21780576C>T | GRCh37 |
| NC_000014.7:g.20850416C>T | NCBI36 |
| NG_008933.1:g.29441C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.1078-16C>T MANE Select | ENSP00000382895.2:n.1078-16C>T | |
| ENST00000400017.6:c.1078-16C>T | ENSP00000382895.2:n.1078-16C>T | |
| ENST00000556336.5:c.997-16C>T | ENSP00000450445.1:n.997-16C>T | |
| ENST00000557771.5:c.997-16C>T | ENSP00000451219.1:n.997-16C>T | |
| NM_020366.3:c.1078-16C>T | NP_065099.3:n.1078-16C>T | |
| XM_011536983.1:c.1045-16C>T | XP_011535285.1:n.1045-16C>T | |
| NM_020366.4:c.1078-16C>T MANE Select | NP_065099.3:n.1078-16C>T |