Linked Data
ClinVar Variation Id:
312530
ClinVar RCV Id:
RCV000279772
dbSNP Id:
rs886050348
gnomAD v2:
13-93879268-C-T
gnomAD v3:
13-93227015-C-T
gnomAD v4:
13-93227015-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.93227015C>T , CM000675.2:g.93227015C>T | GRCh38 |
| NC_000013.10:g.93879268C>T , CM000675.1:g.93879268C>T | GRCh37 |
| NC_000013.9:g.92677269C>T | NCBI36 |
| NG_011880.1:g.5191C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377047.9:c.-442C>T MANE Select | ENSP00000366246.3:n.-442C>T | |
| ENST00000377047.8:c.-442C>T | ENSP00000366246.3:n.-442C>T | |
| NM_005708.3:c.-442C>T | NP_005699.1:n.-442C>T | |
| NM_005708.4:c.-442C>T | NP_005699.1:n.-442C>T | |
| NM_005708.5:c.-442C>T MANE Select | NP_005699.1:n.-442C>T |