Linked Data
ClinVar Variation Id:
312534
ClinVar RCV Id:
RCV000349470
dbSNP Id:
rs550165187
gnomAD v3:
13-93227324-G-T
gnomAD v4:
13-93227324-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.93227324G>T , CM000675.2:g.93227324G>T | GRCh38 |
| NC_000013.10:g.93879577G>T , CM000675.1:g.93879577G>T | GRCh37 |
| NC_000013.9:g.92677578G>T | NCBI36 |
| NG_011880.1:g.5500G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377047.9:c.-133G>T MANE Select | ENSP00000366246.3:n.-133G>T | |
| ENST00000377047.8:c.-133G>T | ENSP00000366246.3:n.-133G>T | |
| NM_005708.3:c.-133G>T | NP_005699.1:n.-133G>T | |
| NM_005708.4:c.-133G>T | NP_005699.1:n.-133G>T | |
| NM_005708.5:c.-133G>T MANE Select | NP_005699.1:n.-133G>T |