Linked Data
ClinVar Variation Id:
312174
dbSNP Id:
rs112276566
gnomAD v2:
13-41367296-A-T
gnomAD v3:
13-40793160-A-T
gnomAD v4:
13-40793160-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.40793160A>T , CM000675.2:g.40793160A>T | GRCh38 |
| NC_000013.10:g.41367296A>T , CM000675.1:g.41367296A>T | GRCh37 |
| NC_000013.9:g.40265296A>T | NCBI36 |
| NG_012248.1:g.8750A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707033.1:c.-67A>T | ENSP00000516711.1:n.-67A>T | |
| ENST00000338625.9:c.-67A>T MANE Select | ENSP00000342267.4:n.-67A>T | |
| ENST00000338625.8:c.-67A>T | ENSP00000342267.4:n.-67A>T | |
| ENST00000417731.5:c.-67A>T | ENSP00000415826.1:n.-67A>T | |
| ENST00000470509.1:c.-67A>T | ENSP00000431429.1:n.-67A>T | |
| ENST00000478827.1:n.255A>T | ||
| NM_014252.3:c.-67A>T | NP_055067.1:n.-67A>T | |
| NM_014252.4:c.-67A>T MANE Select | NP_055067.1:n.-67A>T |