Linked Data
ClinVar Variation Id:
329838
dbSNP Id:
rs112085495
gnomAD v2:
19-49661017-G-T
gnomAD v3:
19-49157760-G-T
gnomAD v4:
19-49157760-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49157760G>T , CM000681.2:g.49157760G>T | GRCh38 |
| NC_000019.9:g.49661017G>T , CM000681.1:g.49661017G>T | GRCh37 |
| NC_000019.8:g.54352829G>T | NCBI36 |
| NG_027551.1:g.5002G>T | |
| NG_027551.2:g.5002G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252826.9:c.-107G>T | ENSP00000252826.4:n.-107G>T | |
| ENST00000598691.5:c.-107G>T | ENSP00000473231.1:n.-107G>T | |
| NM_001195227.1:c.-107G>T | NP_001182156.1:n.-107G>T | |
| NM_017636.3:c.-107G>T | NP_060106.2:n.-107G>T | |
| NM_001321281.1:c.-107G>T | NP_001308210.1:n.-107G>T | |
| NM_001321282.1:c.-1479G>T | NP_001308211.1:n.-1479G>T | |
| NM_001321283.1:c.-273G>T | NP_001308212.1:n.-273G>T | |
| NM_001321285.1:c.-436G>T | NP_001308214.1:n.-436G>T |