Linked Data
ClinVar Variation Id:
327504
ClinVar RCV Id:
RCV000391727
dbSNP Id:
rs75632360
gnomAD v2:
18-56934490-C-T
gnomAD v3:
18-59267258-C-T
gnomAD v4:
18-59267258-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.59267258C>T , CM000680.2:g.59267258C>T | GRCh38 |
| NC_000018.9:g.56934490C>T , CM000680.1:g.56934490C>T | GRCh37 |
| NC_000018.8:g.55085470C>T | NCBI36 |
| NG_013031.1:g.11136G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334889.4:c.*1746G>A MANE Select | ENSP00000334813.3:n.*1746G>A | |
| ENST00000256852.7:c.*2218G>A | ENSP00000256852.7:n.*2218G>A | |
| ENST00000334889.3:c.*1746G>A | ENSP00000334813.3:n.*1746G>A | |
| NM_013435.2:c.*1746G>A | NP_038463.2:n.*1746G>A | |
| NM_013435.3:c.*1746G>A MANE Select | NP_038463.2:n.*1746G>A |