Linked Data
ClinVar Variation Id:
312535
ClinVar RCV Id:
RCV000402433
dbSNP Id:
rs535904928
gnomAD v2:
13-93879610-G-A
gnomAD v3:
13-93227357-G-A
gnomAD v4:
13-93227357-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.93227357G>A , CM000675.2:g.93227357G>A | GRCh38 |
| NC_000013.10:g.93879610G>A , CM000675.1:g.93879610G>A | GRCh37 |
| NC_000013.9:g.92677611G>A | NCBI36 |
| NG_011880.1:g.5533G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377047.9:c.-100G>A MANE Select | ENSP00000366246.3:n.-100G>A | |
| ENST00000377047.8:c.-100G>A | ENSP00000366246.3:n.-100G>A | |
| NM_005708.3:c.-100G>A | NP_005699.1:n.-100G>A | |
| NM_005708.4:c.-100G>A | NP_005699.1:n.-100G>A | |
| NM_005708.5:c.-100G>A MANE Select | NP_005699.1:n.-100G>A |