Linked Data
ClinVar Variation Id:
312124
ClinVar RCV Id:
RCV000355516
dbSNP Id:
rs548475910
ExAC:
13:40229797 A / T
gnomAD v2:
13-40229797-A-T
gnomAD v3:
13-39655660-A-T
gnomAD v4:
13-39655660-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.39655660A>T , CM000675.2:g.39655660A>T | GRCh38 |
| NC_000013.10:g.40229797A>T , CM000675.1:g.40229797A>T | GRCh37 |
| NC_000013.9:g.39127797A>T | NCBI36 |
| NG_028352.1:g.5034A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000416691.5:c.-67A>T | ENSP00000403733.1:n.-67A>T | |
| ENST00000542266.5:c.-67A>T | ENSP00000441297.1:n.-67A>T | |
| NM_001145079.1:c.-67A>T | NP_001138551.1:n.-67A>T | |
| NM_020751.2:c.-67A>T | NP_065802.1:n.-67A>T | |
| NR_026745.1:n.34A>T |