Linked Data
ClinVar Variation Id:
369085
ClinVar RCV Id:
RCV000377365
dbSNP Id:
rs77630815
gnomAD v2:
14-97263680-C-T
gnomAD v3:
14-96797343-C-T
gnomAD v4:
14-96797343-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.96797343C>T , CM000676.2:g.96797343C>T | GRCh38 |
| NC_000014.8:g.97263680C>T , CM000676.1:g.97263680C>T | GRCh37 |
| NC_000014.7:g.96333433C>T | NCBI36 |
| NG_016293.1:g.4997C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553683.2:c.-110C>T | ENSP00000451412.2:n.-110C>T | |
| ENST00000555351.2:n.13C>T | ||
| ENST00000680538.1:c.-110C>T | ENSP00000505611.1:n.-110C>T | |
| ENST00000216639.7:c.-110C>T | ENSP00000216639.3:n.-110C>T |